Mutagenetix > Incidental Mutation

Incidental Mutation 'R1489:Pappa'

163590

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

039541-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1489 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65042411-65275746 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65099185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 568 (Y568F)

Ref Sequence

ENSEMBL: ENSMUSP00000081545 (fasta)

Gene Model

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

AlphaFold

Q8R4K8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084501
AA Change: Y568F

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: Y568F

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

Meta Mutation Damage Score

0.3904

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (52/54)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,106,295 (GRCm39)	S143P	possibly damaging	Het
4930522H14Rik	T	C	4: 109,362,654 (GRCm39)	K218E	possibly damaging	Het
Abcb1a	T	A	5: 8,736,300 (GRCm39)		probably null	Het
Adam39	A	G	8: 41,278,031 (GRCm39)	T141A	possibly damaging	Het
Adam6b	T	A	12: 113,455,071 (GRCm39)	S629R	probably benign	Het
Ap3b2	C	A	7: 81,113,438 (GRCm39)	E924*	probably null	Het
Armc3	A	T	2: 19,314,858 (GRCm39)	Y856F	probably benign	Het
Asap1	A	G	15: 64,044,579 (GRCm39)	L142P	probably damaging	Het
Atg9a	T	A	1: 75,162,734 (GRCm39)	D427V	probably damaging	Het
Atl2	G	A	17: 80,160,135 (GRCm39)	A17V	probably benign	Het
Atxn2l	A	T	7: 126,095,639 (GRCm39)	S379T	probably damaging	Het
C1ql3	G	T	2: 13,015,453 (GRCm39)	P69Q	possibly damaging	Het
Cap2	A	T	13: 46,763,111 (GRCm39)	I114F	probably damaging	Het
Ccdc168	A	G	1: 44,096,950 (GRCm39)	F1383L	probably benign	Het
Ccdc168	T	C	1: 44,100,667 (GRCm39)	I144V	probably benign	Het
Cox16	T	C	12: 81,521,389 (GRCm39)	N135S	probably null	Het
Dnajc13	A	T	9: 104,108,234 (GRCm39)	H180Q	possibly damaging	Het
Dpy19l3	A	T	7: 35,424,835 (GRCm39)	Y73*	probably null	Het
Duox2	T	A	2: 122,123,877 (GRCm39)	M436L	probably benign	Het
Exoc6	T	A	19: 37,585,568 (GRCm39)	M481K	possibly damaging	Het
Fbxw2	GCCCCC	GCCCCCCCC	2: 34,702,829 (GRCm39)		probably benign	Het
Fmn1	T	A	2: 113,195,557 (GRCm39)	V419E	unknown	Het
Fndc4	T	C	5: 31,450,795 (GRCm39)	*232W	probably null	Het
Foxc1	C	T	13: 31,992,595 (GRCm39)	R469*	probably null	Het
Fsip2	A	G	2: 82,810,155 (GRCm39)	H2158R	probably benign	Het
Ghdc	C	T	11: 100,659,083 (GRCm39)	G373D	probably benign	Het
Gm10330	A	T	12: 23,830,032 (GRCm39)	S50T	probably benign	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Lonrf1	A	G	8: 36,690,108 (GRCm39)	V650A	probably damaging	Het
Map1a	T	C	2: 121,130,918 (GRCm39)	V578A	possibly damaging	Het
Mbd3	C	G	10: 80,229,740 (GRCm39)	D190H	probably damaging	Het
Mcpt9	T	C	14: 56,264,976 (GRCm39)	K175R	probably benign	Het
Mia3	A	G	1: 183,120,121 (GRCm39)	S85P	probably benign	Het
Myrip	T	C	9: 120,261,595 (GRCm39)	F403L	probably damaging	Het
Nox4	A	G	7: 86,954,097 (GRCm39)	Y134C	probably damaging	Het
Numb	A	G	12: 83,842,217 (GRCm39)	L642P	probably damaging	Het
Pdzrn4	T	C	15: 92,575,593 (GRCm39)	L333P	probably benign	Het
Prl	A	T	13: 27,241,619 (GRCm39)	S3C	probably damaging	Het
Ptprc	T	C	1: 138,047,824 (GRCm39)	T60A	possibly damaging	Het
Rbm10	C	T	X: 20,503,903 (GRCm39)		probably benign	Het
Slc7a7	C	T	14: 54,646,103 (GRCm39)	R120H	probably damaging	Het
Smpd1	T	C	7: 105,205,761 (GRCm39)		probably null	Het
Spta1	A	G	1: 174,058,891 (GRCm39)	E1942G	probably damaging	Het
Tmem38a	A	G	8: 73,333,479 (GRCm39)	Y66C	probably damaging	Het
Tnnt1	A	T	7: 4,510,524 (GRCm39)	Y232*	probably null	Het
Tpte	T	C	8: 22,839,405 (GRCm39)		probably null	Het
Virma	T	C	4: 11,521,164 (GRCm39)	V907A	probably damaging	Het
Vmn1r174	C	T	7: 23,453,981 (GRCm39)	Q216*	probably null	Het
Zswim3	T	C	2: 164,661,901 (GRCm39)	V127A	probably benign	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
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
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'- CCCTTTTCAAGCATGATGCAAGGTG -3'
(R):5'- GGCTACAATCAGGGATGTGTTGGAC -3'

Sequencing Primer
(F):5'- CAGTTCTGGTAACCAGTCACTCATAG -3'
(R):5'- GATGTGTTGGACCCTACCTGC -3'

Posted On

2014-03-28