Mutagenetix > Incidental Mutation

Incidental Mutation 'R2504:Pappa'

252109

Institutional Source

Beutler Lab

Gene Symbol

Pappa

Ensembl Gene

ENSMUSG00000028370

Gene Name

pregnancy-associated plasma protein A

Synonyms

PAPP-A, PAG1, 8430414N03Rik, IGFBP-4ase

MMRRC Submission

040412-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2504 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65042411-65275746 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 65099126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 548 (Y548*)

Ref Sequence

ENSEMBL: ENSMUSP00000081545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084501]

AlphaFold

Q8R4K8

Predicted Effect

probably null
Transcript: ENSMUST00000084501
AA Change: Y548*

SMART Domains

Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: Y548*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	24	66	N/A	INTRINSIC
low complexity region	69	87	N/A	INTRINSIC
LamGL	114	263	1.55e-54	SMART
NL	396	438	4.15e-8	SMART
NL	441	471	6.73e-1	SMART
Pfam:Peptidase_M43	500	657	2.5e-10	PFAM
Blast:FN3	669	929	1e-165	BLAST
CCP	1212	1277	1.39e-9	SMART
CCP	1282	1339	1.08e-6	SMART
CCP	1343	1407	1.64e-6	SMART
CCP	1412	1468	8.06e-6	SMART
NL	1544	1581	3.24e-10	SMART
low complexity region	1584	1591	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). It is thought to be involved in local proliferative processes such as wound healing and bone remodeling. Low plasma level of this protein has been suggested as a biochemical marker for pregnancies with aneuploid fetuses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are smaller than normal with delayed ossification, but are otherwise normal and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,909,681 (GRCm39)	D28G	probably benign	Het
Abcg1	T	A	17: 31,311,369 (GRCm39)	S125T	probably damaging	Het
Actbl2	T	C	13: 111,392,717 (GRCm39)	S351P	possibly damaging	Het
Ankrd34b	A	G	13: 92,575,569 (GRCm39)		probably null	Het
BC051665	C	T	13: 60,930,468 (GRCm39)	V295I	probably benign	Het
C1qtnf2	A	G	11: 43,381,983 (GRCm39)	N265S	probably damaging	Het
Ccdc14	C	T	16: 34,542,220 (GRCm39)	R573*	probably null	Het
Cd55b	A	T	1: 130,337,612 (GRCm39)	Y247N	probably damaging	Het
Celsr2	A	T	3: 108,320,907 (GRCm39)	V635E	probably benign	Het
Clec16a	T	C	16: 10,377,551 (GRCm39)		probably benign	Het
Clec4b1	A	G	6: 123,042,904 (GRCm39)	Y41C	probably damaging	Het
Cntn5	A	T	9: 10,172,126 (GRCm39)	D19E	probably benign	Het
Cop1	A	G	1: 159,060,375 (GRCm39)	N53S	probably damaging	Het
Cplane1	G	A	15: 8,248,700 (GRCm39)	E1750K	probably damaging	Het
Csad	A	T	15: 102,097,102 (GRCm39)	M1K	probably null	Het
Cyb5rl	A	G	4: 106,938,142 (GRCm39)	I200V	probably benign	Het
Cyp26a1	A	G	19: 37,686,790 (GRCm39)	T81A	probably damaging	Het
Cyp2d12	A	T	15: 82,443,237 (GRCm39)	H433L	probably benign	Het
D7Ertd443e	T	A	7: 133,951,208 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 139,097,908 (GRCm39)		probably benign	Het
Dmap1	G	T	4: 117,532,495 (GRCm39)	T357K	probably damaging	Het
Dzip1	G	T	14: 119,118,456 (GRCm39)	T759K	probably benign	Het
Elmo2	A	G	2: 165,140,607 (GRCm39)	V300A	probably damaging	Het
Eml5	T	C	12: 98,810,364 (GRCm39)	D864G	possibly damaging	Het
Ep400	A	G	5: 110,816,511 (GRCm39)	V2670A	probably damaging	Het
Epha3	T	A	16: 63,423,988 (GRCm39)	I534F	probably damaging	Het
Epha4	A	C	1: 77,359,628 (GRCm39)	Y742D	probably damaging	Het
Ergic2	A	G	6: 148,106,272 (GRCm39)		probably null	Het
Ero1a	A	T	14: 45,536,545 (GRCm39)		probably null	Het
Fam229a	A	G	4: 129,385,279 (GRCm39)	D70G	probably damaging	Het
Fbn2	C	T	18: 58,226,431 (GRCm39)	R781Q	probably damaging	Het
Fbxo16	A	T	14: 65,508,163 (GRCm39)		probably benign	Het
Fbxo39	T	A	11: 72,208,111 (GRCm39)	S154R	probably benign	Het
Fer	T	A	17: 64,298,575 (GRCm39)		probably null	Het
Filip1l	A	T	16: 57,391,410 (GRCm39)	D428V	probably damaging	Het
Filip1l	A	G	16: 57,391,025 (GRCm39)	I538V	possibly damaging	Het
Fsip2	T	C	2: 82,809,954 (GRCm39)	I2091T	possibly damaging	Het
Glyat	A	C	19: 12,628,762 (GRCm39)	T186P	possibly damaging	Het
Gm10604	A	G	4: 11,980,083 (GRCm39)	S74P	unknown	Het
Gm4787	T	G	12: 81,425,911 (GRCm39)	K82N	possibly damaging	Het
Hectd4	T	C	5: 121,358,683 (GRCm39)	I50T	unknown	Het
Hectd4	T	C	5: 121,402,030 (GRCm39)	S373P	possibly damaging	Het
Hmcn1	A	T	1: 150,562,618 (GRCm39)	C2313*	probably null	Het
Hrob	T	C	11: 102,146,122 (GRCm39)	Y133H	possibly damaging	Het
Igfn1	A	T	1: 135,897,054 (GRCm39)	S1171T	probably benign	Het
Ints8	T	C	4: 11,241,642 (GRCm39)	D267G	probably benign	Het
Itln1	A	G	1: 171,356,727 (GRCm39)	C251R	probably damaging	Het
Jcad	C	T	18: 4,674,026 (GRCm39)	T596M	probably damaging	Het
Kcnj16	C	T	11: 110,916,409 (GRCm39)	T357M	probably benign	Het
Kif13a	G	A	13: 46,967,676 (GRCm39)	T346M	probably damaging	Het
Klhl24	G	A	16: 19,938,917 (GRCm39)	A491T	probably benign	Het
Kntc1	C	T	5: 123,916,410 (GRCm39)	Q748*	probably null	Het
Krt25	T	A	11: 99,208,122 (GRCm39)	K369*	probably null	Het
Krt75	C	T	15: 101,476,466 (GRCm39)	R433Q	probably benign	Het
Krt76	A	G	15: 101,793,293 (GRCm39)	F582L	unknown	Het
Lysmd1	G	A	3: 95,045,708 (GRCm39)	V182I	probably benign	Het
Mab21l2	T	A	3: 86,454,862 (GRCm39)	E46V	probably damaging	Het
Magi2	A	T	5: 20,563,934 (GRCm39)	K355N	probably damaging	Het
Marchf10	T	C	11: 105,276,398 (GRCm39)	D630G	probably damaging	Het
Mast4	A	T	13: 102,875,147 (GRCm39)	I1215N	probably damaging	Het
Nckap1	G	A	2: 80,360,562 (GRCm39)	T523I	probably benign	Het
Nexmif	T	A	X: 103,127,999 (GRCm39)	D1306V	probably damaging	Het
Nfkb1	A	C	3: 135,295,090 (GRCm39)	I918R	possibly damaging	Het
Nt5el	A	G	13: 105,246,250 (GRCm39)	I270M	probably benign	Het
Nup50	A	T	15: 84,817,859 (GRCm39)	T93S	probably benign	Het
Nwd2	T	C	5: 63,961,717 (GRCm39)	Y434H	probably benign	Het
Or13a28	T	C	7: 140,218,397 (GRCm39)	V261A	probably benign	Het
Osbpl1a	C	A	18: 13,038,088 (GRCm39)	V288L	probably benign	Het
Pan3	A	G	5: 147,463,846 (GRCm39)	E562G	possibly damaging	Het
Phf3	A	T	1: 30,849,870 (GRCm39)	L1181Q	probably damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Pkhd1l1	T	C	15: 44,348,824 (GRCm39)	I240T	probably damaging	Het
Pole	G	A	5: 110,438,368 (GRCm39)		probably null	Het
Polq	T	A	16: 36,832,304 (GRCm39)	S15T	unknown	Het
Prrt2	T	C	7: 126,619,396 (GRCm39)	E23G	possibly damaging	Het
Prss37	A	T	6: 40,494,760 (GRCm39)		probably null	Het
Prune2	T	C	19: 16,977,400 (GRCm39)	L45P	probably damaging	Het
Psd	A	T	19: 46,313,352 (GRCm39)	M6K	possibly damaging	Het
Psmd1	A	G	1: 86,017,719 (GRCm39)	E510G	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Pxdn	T	A	12: 30,053,405 (GRCm39)	I1194N	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rgmb	C	A	17: 16,027,909 (GRCm39)	R270L	probably benign	Het
Rpgrip1l	A	G	8: 92,007,344 (GRCm39)		probably null	Het
Rps2	G	A	17: 24,939,353 (GRCm39)		probably benign	Het
Rsbn1l	G	T	5: 21,107,364 (GRCm39)	A550E	probably damaging	Het
S1pr4	C	T	10: 81,335,138 (GRCm39)	R112H	probably benign	Het
Scfd2	T	C	5: 74,691,838 (GRCm39)	N148S	probably damaging	Het
Scin	C	T	12: 40,131,705 (GRCm39)	M276I	probably benign	Het
Sec24d	T	C	3: 123,147,255 (GRCm39)	I708T	possibly damaging	Het
Skint11	T	A	4: 114,086,009 (GRCm39)	F41I	possibly damaging	Het
Slc15a4	A	T	5: 127,694,303 (GRCm39)	F44Y	possibly damaging	Het
Slc6a18	A	G	13: 73,823,925 (GRCm39)	Y72H	probably benign	Het
Slc7a11	A	T	3: 50,332,195 (GRCm39)		probably null	Het
Slc7a14	G	T	3: 31,291,650 (GRCm39)	N209K	possibly damaging	Het
Sstr2	T	C	11: 113,515,257 (GRCm39)	C59R	probably damaging	Het
Stab1	A	G	14: 30,884,997 (GRCm39)		probably null	Het
Stag1	G	T	9: 100,748,263 (GRCm39)	S475I	probably damaging	Het
Stxbp5l	A	G	16: 36,936,029 (GRCm39)	Y1183H	probably damaging	Het
Svep1	A	T	4: 58,135,628 (GRCm39)		probably null	Het
Tm9sf2	A	G	14: 122,396,096 (GRCm39)	T653A	probably benign	Het
Tmeff1	T	C	4: 48,662,059 (GRCm39)	S366P	possibly damaging	Het
Tnnt2	G	T	1: 135,779,803 (GRCm39)	W300L	probably damaging	Het
Traj32	A	G	14: 54,423,560 (GRCm39)		probably benign	Het
Trp53bp2	A	T	1: 182,269,204 (GRCm39)	M223L	probably benign	Het
Tsga10	G	A	1: 37,854,758 (GRCm39)	T246M	probably damaging	Het
Txn2	A	T	15: 77,810,870 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,768,542 (GRCm39)	F450I	probably damaging	Het
Usp47	T	C	7: 111,703,677 (GRCm39)		probably null	Het
Vars2	C	T	17: 35,975,685 (GRCm39)	R244Q	probably damaging	Het
Xrra1	T	A	7: 99,546,803 (GRCm39)	F251L	probably damaging	Het
Zfp804a	G	A	2: 82,087,863 (GRCm39)	R564Q	probably benign	Het
Zfp983	T	C	17: 21,877,883 (GRCm39)	C29R	probably damaging	Het

Other mutations in Pappa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Pappa	APN	4	65,107,553 (GRCm39)	missense	probably damaging	1.00
IGL01340:Pappa	APN	4	65,242,109 (GRCm39)	missense	possibly damaging	0.49
IGL01482:Pappa	APN	4	65,074,271 (GRCm39)	missense	probably benign	0.18
IGL01485:Pappa	APN	4	65,107,536 (GRCm39)	missense	probably damaging	0.96
IGL01759:Pappa	APN	4	65,123,395 (GRCm39)	splice site	probably null
IGL01860:Pappa	APN	4	65,123,329 (GRCm39)	missense	possibly damaging	0.50
IGL01990:Pappa	APN	4	65,074,924 (GRCm39)	splice site	probably benign
IGL02089:Pappa	APN	4	65,074,361 (GRCm39)	missense	possibly damaging	0.75
IGL02153:Pappa	APN	4	65,215,674 (GRCm39)	missense	probably damaging	0.96
IGL02184:Pappa	APN	4	65,258,928 (GRCm39)	missense	possibly damaging	0.82
IGL02324:Pappa	APN	4	65,115,045 (GRCm39)	missense	probably damaging	0.99
IGL02542:Pappa	APN	4	65,094,518 (GRCm39)	missense	probably damaging	1.00
IGL02556:Pappa	APN	4	65,074,863 (GRCm39)	missense	possibly damaging	0.56
IGL02698:Pappa	APN	4	65,099,257 (GRCm39)	missense	probably damaging	1.00
IGL02903:Pappa	APN	4	65,180,217 (GRCm39)	missense	probably damaging	1.00
IGL02974:Pappa	APN	4	65,123,172 (GRCm39)	missense	probably damaging	1.00
IGL03107:Pappa	APN	4	65,122,940 (GRCm39)	missense	probably damaging	1.00
IGL03376:Pappa	APN	4	65,115,071 (GRCm39)	missense	probably benign	0.01
caer	UTSW	4	65,043,128 (GRCm39)	missense	probably damaging	0.98
Maennel	UTSW	4	65,232,824 (GRCm39)	missense	probably benign	0.05
maennelein	UTSW	4	65,233,033 (GRCm39)	splice site	probably null
mama	UTSW	4	65,123,104 (GRCm39)	missense	possibly damaging	0.94
Revisitation	UTSW	4	65,212,705 (GRCm39)	missense	probably damaging	0.96
Sesquester	UTSW	4	65,074,612 (GRCm39)	missense	possibly damaging	0.66
untersuchen	UTSW	4	65,215,494 (GRCm39)	missense	probably damaging	1.00
IGL02980:Pappa	UTSW	4	65,226,011 (GRCm39)	missense	probably benign	0.25
PIT4498001:Pappa	UTSW	4	65,234,469 (GRCm39)	missense	probably damaging	1.00
R0077:Pappa	UTSW	4	65,226,049 (GRCm39)	missense	probably damaging	1.00
R0390:Pappa	UTSW	4	65,269,850 (GRCm39)	splice site	probably null
R0458:Pappa	UTSW	4	65,074,119 (GRCm39)	missense	probably damaging	1.00
R0883:Pappa	UTSW	4	65,107,552 (GRCm39)	nonsense	probably null
R0946:Pappa	UTSW	4	65,233,029 (GRCm39)	critical splice donor site	probably null
R1228:Pappa	UTSW	4	65,258,926 (GRCm39)	missense	probably damaging	1.00
R1327:Pappa	UTSW	4	65,269,840 (GRCm39)	splice site	probably benign
R1489:Pappa	UTSW	4	65,099,185 (GRCm39)	missense	possibly damaging	0.85
R1619:Pappa	UTSW	4	65,094,466 (GRCm39)	missense	probably damaging	1.00
R1856:Pappa	UTSW	4	65,258,980 (GRCm39)	missense	probably damaging	1.00
R2047:Pappa	UTSW	4	65,149,378 (GRCm39)	splice site	probably benign
R2102:Pappa	UTSW	4	65,234,465 (GRCm39)	nonsense	probably null
R2127:Pappa	UTSW	4	65,215,494 (GRCm39)	missense	probably damaging	1.00
R2143:Pappa	UTSW	4	65,099,186 (GRCm39)	nonsense	probably null
R2144:Pappa	UTSW	4	65,099,186 (GRCm39)	nonsense	probably null
R2166:Pappa	UTSW	4	65,074,682 (GRCm39)	missense	probably damaging	1.00
R2167:Pappa	UTSW	4	65,074,682 (GRCm39)	missense	probably damaging	1.00
R2168:Pappa	UTSW	4	65,074,682 (GRCm39)	missense	probably damaging	1.00
R2178:Pappa	UTSW	4	65,269,924 (GRCm39)	missense	probably benign	0.00
R4043:Pappa	UTSW	4	65,232,824 (GRCm39)	missense	probably benign	0.05
R4289:Pappa	UTSW	4	65,074,100 (GRCm39)	missense	probably benign	0.19
R4415:Pappa	UTSW	4	65,223,532 (GRCm39)	missense	probably benign	0.00
R4529:Pappa	UTSW	4	65,149,419 (GRCm39)	missense	probably benign
R4620:Pappa	UTSW	4	65,245,265 (GRCm39)	missense	probably benign	0.43
R4657:Pappa	UTSW	4	65,233,033 (GRCm39)	splice site	probably null
R4658:Pappa	UTSW	4	65,233,033 (GRCm39)	splice site	probably null
R5074:Pappa	UTSW	4	65,123,365 (GRCm39)	missense	probably benign	0.15
R5200:Pappa	UTSW	4	65,074,076 (GRCm39)	missense	probably damaging	1.00
R5420:Pappa	UTSW	4	65,254,017 (GRCm39)	critical splice donor site	probably null
R5469:Pappa	UTSW	4	65,123,389 (GRCm39)	missense	probably benign	0.01
R5651:Pappa	UTSW	4	65,074,589 (GRCm39)	missense	probably damaging	0.99
R5725:Pappa	UTSW	4	65,107,647 (GRCm39)	missense	probably damaging	1.00
R5941:Pappa	UTSW	4	65,232,830 (GRCm39)	missense	possibly damaging	0.52
R6002:Pappa	UTSW	4	65,215,645 (GRCm39)	missense	probably damaging	0.99
R6252:Pappa	UTSW	4	65,107,649 (GRCm39)	missense	probably benign	0.02
R6303:Pappa	UTSW	4	65,122,891 (GRCm39)	missense	probably damaging	1.00
R6322:Pappa	UTSW	4	65,232,896 (GRCm39)	missense	probably damaging	1.00
R6431:Pappa	UTSW	4	65,074,701 (GRCm39)	missense	probably damaging	1.00
R6462:Pappa	UTSW	4	65,043,128 (GRCm39)	missense	probably damaging	0.98
R6484:Pappa	UTSW	4	65,232,896 (GRCm39)	missense	probably damaging	1.00
R6537:Pappa	UTSW	4	65,215,519 (GRCm39)	missense	probably damaging	0.99
R6578:Pappa	UTSW	4	65,074,374 (GRCm39)	missense	possibly damaging	0.48
R6704:Pappa	UTSW	4	65,123,161 (GRCm39)	missense	probably damaging	1.00
R6789:Pappa	UTSW	4	65,099,278 (GRCm39)	missense	probably damaging	1.00
R7023:Pappa	UTSW	4	65,269,955 (GRCm39)	missense	probably benign	0.00
R7139:Pappa	UTSW	4	65,107,687 (GRCm39)	missense	probably benign	0.30
R7158:Pappa	UTSW	4	65,123,104 (GRCm39)	missense	possibly damaging	0.94
R7165:Pappa	UTSW	4	65,180,110 (GRCm39)	missense	probably damaging	1.00
R7196:Pappa	UTSW	4	65,242,128 (GRCm39)	splice site	probably null
R7410:Pappa	UTSW	4	65,253,956 (GRCm39)	missense	probably damaging	1.00
R7457:Pappa	UTSW	4	65,107,503 (GRCm39)	missense	probably damaging	1.00
R7506:Pappa	UTSW	4	65,149,419 (GRCm39)	missense	probably benign	0.00
R7546:Pappa	UTSW	4	65,074,352 (GRCm39)	missense	possibly damaging	0.48
R7975:Pappa	UTSW	4	65,212,705 (GRCm39)	missense	probably damaging	0.96
R8111:Pappa	UTSW	4	65,180,229 (GRCm39)	missense	probably damaging	0.99
R8260:Pappa	UTSW	4	65,234,419 (GRCm39)	missense	probably damaging	0.99
R8347:Pappa	UTSW	4	65,245,302 (GRCm39)	missense	probably damaging	1.00
R8520:Pappa	UTSW	4	65,254,001 (GRCm39)	missense	probably benign	0.01
R8812:Pappa	UTSW	4	65,123,166 (GRCm39)	missense	possibly damaging	0.94
R8815:Pappa	UTSW	4	65,099,347 (GRCm39)	missense	probably benign	0.00
R9008:Pappa	UTSW	4	65,074,426 (GRCm39)	missense	probably damaging	1.00
R9162:Pappa	UTSW	4	65,123,040 (GRCm39)	missense	probably damaging	1.00
R9170:Pappa	UTSW	4	65,258,962 (GRCm39)	missense	probably damaging	1.00
R9205:Pappa	UTSW	4	65,074,612 (GRCm39)	missense	possibly damaging	0.66
R9336:Pappa	UTSW	4	65,042,918 (GRCm39)	missense	unknown
R9389:Pappa	UTSW	4	65,099,125 (GRCm39)	missense	probably damaging	1.00
R9781:Pappa	UTSW	4	65,043,104 (GRCm39)	missense	possibly damaging	0.89
RF006:Pappa	UTSW	4	65,242,110 (GRCm39)	missense	probably benign	0.00
RF020:Pappa	UTSW	4	65,123,282 (GRCm39)	missense	possibly damaging	0.77
X0058:Pappa	UTSW	4	65,074,469 (GRCm39)	missense	probably damaging	1.00
X0060:Pappa	UTSW	4	65,043,178 (GRCm39)	missense	probably benign	0.00
Z1177:Pappa	UTSW	4	65,225,995 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGAGTTCTGACAACCCAG -3'
(R):5'- GAAAGCCACAAGTGTCATTCC -3'

Sequencing Primer
(F):5'- AGTTCTGACAACCCAGGAACTGTAG -3'
(R):5'- GTCCAGGGTCTCCACAAAACTTG -3'

Posted On

2014-12-04