Mutagenetix > Incidental Mutation

Incidental Mutation 'R8520:Pappa'

658580

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

067947-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8520 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65042411-65275746 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65254001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1552 (V1552I)

Ref Sequence

ENSEMBL: ENSMUSP00000081545 (fasta)

Gene Model

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

AlphaFold

Q8R4K8

Predicted Effect

probably benign
Transcript: ENSMUST00000084501
AA Change: V1552I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: V1552I

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,838,423 (GRCm39)	F136L	possibly damaging	Het
A430033K04Rik	T	A	5: 138,644,968 (GRCm39)	N284K	possibly damaging	Het
Abcb1a	T	C	5: 8,735,346 (GRCm39)	I151T	possibly damaging	Het
Adam28	C	T	14: 68,879,532 (GRCm39)	G172D	probably damaging	Het
Adcy6	A	G	15: 98,502,041 (GRCm39)	V191A	probably benign	Het
Ankrd52	T	C	10: 128,225,359 (GRCm39)	L911P	probably damaging	Het
C5ar1	A	G	7: 15,982,076 (GRCm39)	S315P	probably damaging	Het
Cubn	A	G	2: 13,313,331 (GRCm39)		probably null	Het
Dlec1	T	C	9: 118,941,277 (GRCm39)	S276P	probably benign	Het
Dnah14	T	A	1: 181,481,203 (GRCm39)	I1564N	probably damaging	Het
Dsg2	G	A	18: 20,712,508 (GRCm39)	G171R	probably damaging	Het
Dusp13b	C	A	14: 21,793,538 (GRCm39)	G208*	probably null	Het
Ebf3	A	C	7: 136,802,853 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,171,270 (GRCm39)		probably null	Het
Fbxo27	A	G	7: 28,392,767 (GRCm39)	D16G	probably benign	Het
G6pc3	A	G	11: 102,083,934 (GRCm39)	S187G	probably benign	Het
Gucy2d	G	A	7: 98,121,513 (GRCm39)	V995I	probably null	Het
Hmcn2	C	A	2: 31,244,726 (GRCm39)	P728T	probably damaging	Het
Il1r2	T	C	1: 40,144,499 (GRCm39)	L62P	probably damaging	Het
Ints7	T	C	1: 191,314,603 (GRCm39)	S63P	probably damaging	Het
Lyset	T	A	12: 102,710,431 (GRCm39)		probably null	Het
Mcf2l	C	A	8: 12,930,089 (GRCm39)	D36E	probably benign	Het
Mfsd13b	T	G	7: 120,590,586 (GRCm39)	I109S	probably benign	Het
Mier2	G	A	10: 79,378,263 (GRCm39)	H385Y	possibly damaging	Het
Mydgf	C	A	17: 56,490,734 (GRCm39)		probably null	Het
Nanog	A	T	6: 122,690,475 (GRCm39)	L268F	possibly damaging	Het
Or12j5	T	A	7: 140,084,315 (GRCm39)	D19V	probably benign	Het
Or14a259	A	T	7: 86,013,471 (GRCm39)	C25S	probably benign	Het
Otud4	T	A	8: 80,385,896 (GRCm39)	N256K	probably damaging	Het
P2rx1	A	T	11: 72,899,779 (GRCm39)	D128V	probably benign	Het
Pax8	A	T	2: 24,333,034 (GRCm39)	F103I	probably damaging	Het
Ptk2b	T	A	14: 66,412,204 (GRCm39)	S396C	probably damaging	Het
Rnf148	A	G	6: 23,654,169 (GRCm39)	Y276H	probably damaging	Het
Sec11c	A	T	18: 65,947,911 (GRCm39)	I93L	probably damaging	Het
Serpinb2	T	A	1: 107,450,910 (GRCm39)	N217K	probably benign	Het
Slc2a13	T	A	15: 91,457,105 (GRCm39)	T66S	probably damaging	Het
Slc4a3	T	C	1: 75,526,506 (GRCm39)	M9T	probably benign	Het
Sord	G	A	2: 122,087,423 (GRCm39)	V176I	possibly damaging	Het
Thbs4	G	A	13: 92,890,792 (GRCm39)	Q892*	probably null	Het
Thsd7b	T	A	1: 129,849,157 (GRCm39)	D956E	probably benign	Het
Topbp1	T	A	9: 103,186,176 (GRCm39)		probably null	Het
Tst	T	C	15: 78,289,453 (GRCm39)	E194G	probably damaging	Het
Ttk	T	A	9: 83,739,380 (GRCm39)	S484T	possibly damaging	Het
U2surp	A	G	9: 95,384,607 (GRCm39)	S26P	possibly damaging	Het
Ugt2b37	C	T	5: 87,388,714 (GRCm39)	A500T	probably benign	Het
Utrn	A	T	10: 12,545,930 (GRCm39)	Y1669*	probably null	Het
Vmn2r23	A	T	6: 123,718,615 (GRCm39)	Q656L	probably damaging	Het
Wdr7	A	G	18: 64,120,231 (GRCm39)	N1424S	probably benign	Het
Xkr9	A	G	1: 13,771,603 (GRCm39)	D373G	probably benign	Het
Zfp984	T	A	4: 147,840,668 (GRCm39)	Y61F	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
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
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
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'- ACCAGGGTGAGGTCAGGATTTG -3'
(R):5'- AAGCTTGCCTTGGACTCTCAG -3'

Sequencing Primer
(F):5'- GGTCAGGATTTGGATAGTCTAAAAG -3'
(R):5'- GCCTTGGACTCTCAGAACTG -3'

Posted On

2021-01-18