Mutagenetix > Incidental Mutation

Incidental Mutation 'R6484:Pappa'

517241

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

044616-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65042411-65275746 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 65232896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 1345 (A1345D)

Ref Sequence

ENSEMBL: ENSMUSP00000081545 (fasta)

Gene Model

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

AlphaFold

Q8R4K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000084501
AA Change: A1345D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: A1345D

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: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.7%

Validation Efficiency

100% (60/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	A	T	8: 80,416,952 (GRCm39)	M353K	probably damaging	Het
Adgre4	G	A	17: 56,109,036 (GRCm39)	V348M	possibly damaging	Het
Alg8	T	C	7: 97,032,135 (GRCm39)	V228A	probably benign	Het
Bltp2	T	C	11: 78,169,921 (GRCm39)	V1548A	probably damaging	Het
Btbd8	T	C	5: 107,651,451 (GRCm39)	S115P	probably benign	Het
Car8	A	G	4: 8,189,362 (GRCm39)	F151L	probably benign	Het
CN725425	A	G	15: 91,144,775 (GRCm39)	Q546R	probably benign	Het
Col17a1	C	T	19: 47,658,868 (GRCm39)	V414M	possibly damaging	Het
Col6a3	C	A	1: 90,719,645 (GRCm39)		probably null	Het
Cyp51	G	A	5: 4,136,627 (GRCm39)	T389M	probably benign	Het
Cyren	G	A	6: 34,851,551 (GRCm39)	S101L	probably damaging	Het
Dazap1	A	G	10: 80,113,481 (GRCm39)	T126A	probably benign	Het
Dscc1	T	A	15: 54,943,686 (GRCm39)	K395*	probably null	Het
Dthd1	A	G	5: 62,971,675 (GRCm39)	N166S	probably benign	Het
Eefsec	C	G	6: 88,274,770 (GRCm39)	W398S	probably damaging	Het
Enpep	T	A	3: 129,115,130 (GRCm39)	H214L	probably damaging	Het
Esf1	T	C	2: 140,000,458 (GRCm39)	I443V	probably benign	Het
Espl1	T	C	15: 102,231,935 (GRCm39)	V1984A	possibly damaging	Het
Hip1	A	G	5: 135,468,983 (GRCm39)	S280P	probably damaging	Het
Il12rb1	C	T	8: 71,262,348 (GRCm39)		probably null	Het
Itgax	T	A	7: 127,732,890 (GRCm39)	C255S	probably benign	Het
Kifc5b	T	C	17: 27,143,746 (GRCm39)	V506A	probably damaging	Het
Klf3	A	G	5: 64,980,372 (GRCm39)	E54G	probably damaging	Het
Lrig3	A	G	10: 125,832,478 (GRCm39)		probably null	Het
Mctp1	A	G	13: 76,836,744 (GRCm39)	I104V	probably benign	Het
Mdga2	T	C	12: 66,676,843 (GRCm39)	E552G	possibly damaging	Het
Mpc1	A	G	17: 8,515,788 (GRCm39)	E160G	possibly damaging	Het
Myh10	T	A	11: 68,590,293 (GRCm39)	I76N	probably damaging	Het
Myh7b	A	T	2: 155,470,563 (GRCm39)	I1032F	probably benign	Het
Olfml2a	G	A	2: 38,849,780 (GRCm39)	V499I	probably damaging	Het
Or2h1	T	A	17: 37,404,158 (GRCm39)	I203F	probably benign	Het
Or4f58	A	T	2: 111,851,764 (GRCm39)	L145*	probably null	Het
Or5b105	A	G	19: 13,080,431 (GRCm39)	V79A	probably benign	Het
P2ry12	A	G	3: 59,124,754 (GRCm39)	L307P	probably damaging	Het
Phox2b	A	G	5: 67,255,044 (GRCm39)	I135T	possibly damaging	Het
Poln	C	T	5: 34,286,857 (GRCm39)	A104T	probably benign	Het
Prkce	A	G	17: 86,798,237 (GRCm39)	D342G	probably benign	Het
Ptchd3	T	A	11: 121,733,764 (GRCm39)	F885I	possibly damaging	Het
Rcbtb2	A	T	14: 73,414,490 (GRCm39)	S434C	probably damaging	Het
Rfc1	A	G	5: 65,451,020 (GRCm39)	V356A	probably benign	Het
Rln1	A	G	19: 29,311,902 (GRCm39)	F32S	probably benign	Het
Ryr2	A	G	13: 11,677,269 (GRCm39)	L3194P	possibly damaging	Het
Sat2	T	C	11: 69,513,353 (GRCm39)	V34A	probably damaging	Het
Scgb3a2	T	C	18: 43,899,784 (GRCm39)	I24T	possibly damaging	Het
Slc35e2	T	G	4: 155,697,104 (GRCm39)	V206G	probably damaging	Het
Slit3	A	T	11: 35,552,125 (GRCm39)	M890L	probably benign	Het
Sorl1	A	G	9: 41,887,703 (GRCm39)	L2042P	probably damaging	Het
Ssbp1	T	A	6: 40,451,600 (GRCm39)	V9E	probably damaging	Het
Tbc1d23	C	T	16: 56,998,379 (GRCm39)	V520M	probably damaging	Het
Thumpd2	T	C	17: 81,361,617 (GRCm39)	E203G	probably benign	Het
Tlr11	A	G	14: 50,600,135 (GRCm39)	D707G	probably damaging	Het
Tlr12	T	A	4: 128,509,847 (GRCm39)	D801V	probably damaging	Het
Tnrc6b	T	G	15: 80,763,525 (GRCm39)	N342K	possibly damaging	Het
Vmn1r191	A	C	13: 22,362,918 (GRCm39)	F279V	probably benign	Het
Vmn2r13	A	T	5: 109,304,540 (GRCm39)	C630*	probably null	Het
Zbtb1	C	T	12: 76,432,665 (GRCm39)	T217I	probably damaging	Het
Zfp385b	ATCTTCTTCTTCT	ATCTTCTTCTTCTTCT	2: 77,549,992 (GRCm39)		probably benign	Het
Zzef1	C	T	11: 72,786,097 (GRCm39)	P2090S	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
R2504:Pappa	UTSW	4	65,099,126 (GRCm39)	nonsense	probably null
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
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'- GGCATTGGAATTCTAACCAGGG -3'
(R):5'- TATGGCTATGACCCTACTGTCC -3'

Sequencing Primer
(F):5'- TTGGAATTCTAACCAGGGATCCC -3'
(R):5'- GACCCTACTGTCCTCCTTCTCAAG -3'

Posted On

2018-05-21