Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02089:Pappa'

279360

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pappa

Ensembl Gene

ENSMUSG00000028370

Gene Name

pregnancy-associated plasma protein A

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02089

Quality Score

Status

Chromosome

Chromosomal Location

65042411-65275746 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65074361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 305 (V305E)

Ref Sequence

ENSEMBL: ENSMUSP00000081545 (fasta)

Gene Model

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

AlphaFold

Q8R4K8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084501
AA Change: V305E

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: V305E

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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330160F10Rik	C	T	11: 68,951,013 (GRCm39)		silent	Het
Adck1	G	T	12: 88,413,480 (GRCm39)	V271F	probably damaging	Het
Aggf1	T	C	13: 95,507,437 (GRCm39)	D116G	probably benign	Het
Anapc1	A	T	2: 128,505,853 (GRCm39)	V661E	probably damaging	Het
Apoa5	T	C	9: 46,180,437 (GRCm39)		probably null	Het
Atp8a2	C	T	14: 60,264,369 (GRCm39)		probably null	Het
Bnipl	A	T	3: 95,157,577 (GRCm39)		probably benign	Het
Cbs	T	G	17: 31,834,519 (GRCm39)	D490A	probably benign	Het
Chrdl1	G	T	X: 142,086,510 (GRCm39)	H199N	possibly damaging	Het
Dcaf1	C	T	9: 106,740,310 (GRCm39)	T1232I	probably benign	Het
Ddx19b	T	C	8: 111,735,477 (GRCm39)		probably benign	Het
Ephb4	A	G	5: 137,369,024 (GRCm39)	K805E	probably damaging	Het
Ergic3	A	G	2: 155,852,395 (GRCm39)	N135D	probably benign	Het
Fbxw18	C	T	9: 109,530,390 (GRCm39)	V74I	probably benign	Het
Fmo4	G	T	1: 162,626,649 (GRCm39)	T299N	probably benign	Het
Gmeb1	T	C	4: 131,953,147 (GRCm39)	K540E	probably damaging	Het
H60c	T	A	10: 3,209,826 (GRCm39)	S154C	possibly damaging	Het
Herc1	T	C	9: 66,388,151 (GRCm39)	L3812S	probably damaging	Het
Hipk3	T	C	2: 104,261,724 (GRCm39)	D937G	probably damaging	Het
Ift122	A	G	6: 115,902,398 (GRCm39)	D1079G	probably benign	Het
Il6st	T	C	13: 112,631,774 (GRCm39)	W438R	probably benign	Het
Lypla2	C	T	4: 135,696,932 (GRCm39)	V117I	probably benign	Het
Mapk8ip1	T	C	2: 92,216,220 (GRCm39)	Y516C	probably damaging	Het
Mmp24	G	A	2: 155,654,213 (GRCm39)	G397D	probably damaging	Het
Muc4	G	A	16: 32,570,131 (GRCm39)	S397N	possibly damaging	Het
Muc5b	T	G	7: 141,416,987 (GRCm39)	V3311G	probably benign	Het
Naca	A	G	10: 127,872,358 (GRCm39)		probably benign	Het
Nrxn1	A	G	17: 91,395,829 (GRCm39)	V109A	probably benign	Het
Nup210	T	G	6: 91,053,680 (GRCm39)	D279A	probably benign	Het
Or10g6	A	T	9: 39,934,066 (GRCm39)	I126F	probably damaging	Het
Or8h7	A	G	2: 86,721,460 (GRCm39)	S20P	possibly damaging	Het
Pcdh19	A	T	X: 132,489,245 (GRCm39)	M977K	probably benign	Het
Pdzph1	T	A	17: 59,274,334 (GRCm39)	I837F	possibly damaging	Het
Phip	A	T	9: 82,753,372 (GRCm39)	L1791M	probably damaging	Het
Pkdrej	C	T	15: 85,700,489 (GRCm39)	V1816I	possibly damaging	Het
Ptprz1	G	A	6: 23,033,447 (GRCm39)	V1063M	probably damaging	Het
Qprt	A	T	7: 126,707,528 (GRCm39)	M220K	probably damaging	Het
R3hcc1	T	C	14: 69,937,475 (GRCm39)	K391E	possibly damaging	Het
Rbbp7	C	A	X: 161,554,052 (GRCm39)	P162Q	probably benign	Het
Rev3l	A	T	10: 39,701,095 (GRCm39)	N1864I	probably damaging	Het
Rims1	A	G	1: 22,669,556 (GRCm39)	I84T	possibly damaging	Het
Rnase2b	A	T	14: 51,400,240 (GRCm39)	K107I	probably benign	Het
Sbf1	C	A	15: 89,186,708 (GRCm39)	E864*	probably null	Het
Strip2	G	A	6: 29,917,179 (GRCm39)		probably benign	Het
Stx4a	T	C	7: 127,447,570 (GRCm39)	I238T	probably damaging	Het
Tbc1d2b	C	T	9: 90,104,412 (GRCm39)	V577I	possibly damaging	Het
Tex38	T	C	4: 115,637,591 (GRCm39)	T71A	possibly damaging	Het
Usp38	T	C	8: 81,712,343 (GRCm39)	E564G	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,374 (GRCm39)	V730E	probably benign	Het
Wwp2	T	A	8: 108,280,689 (GRCm39)	L644Q	probably damaging	Het
Zfp267	T	C	3: 36,218,877 (GRCm39)	F300S	possibly damaging	Het
Zpld1	A	G	16: 55,071,974 (GRCm39)	I95T	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
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
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

Posted On

2015-04-16