Mutagenetix > Incidental Mutation

Incidental Mutation 'R6252:Pappa'

506271

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

044369-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6252 (G1)

Quality Score

197.009

Status

Not validated

Chromosome

Chromosomal Location

65042411-65275746 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65107649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 687 (M687V)

Ref Sequence

ENSEMBL: ENSMUSP00000081545 (fasta)

Gene Model

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

AlphaFold

Q8R4K8

Predicted Effect

probably benign
Transcript: ENSMUST00000084501
AA Change: M687V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: M687V

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: 98.6%
20x: 96.1%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,122,305 (GRCm39)	I393V	probably benign	Het
Agl	C	T	3: 116,580,878 (GRCm39)		probably null	Het
Ankrd11	T	C	8: 123,620,561 (GRCm39)	E1097G	possibly damaging	Het
Aoc1	A	G	6: 48,883,015 (GRCm39)	H297R	probably benign	Het
AW146154	G	A	7: 41,130,811 (GRCm39)	P102S	probably benign	Het
Cap1	A	G	4: 122,766,193 (GRCm39)	V15A	probably benign	Het
Cavin2	A	G	1: 51,328,828 (GRCm39)	N95S	probably benign	Het
Col11a2	T	A	17: 34,261,186 (GRCm39)	D45E	probably null	Het
Col8a1	A	G	16: 57,447,368 (GRCm39)	V714A	unknown	Het
Crispld1	A	G	1: 17,819,731 (GRCm39)	E243G	probably benign	Het
Daam1	G	A	12: 72,035,723 (GRCm39)	G964R	probably damaging	Het
Elapor2	T	C	5: 9,460,693 (GRCm39)	Y205H	probably damaging	Het
Epg5	T	C	18: 78,028,382 (GRCm39)	F1308L	probably damaging	Het
Eqtn	A	T	4: 94,796,006 (GRCm39)	S232T	probably damaging	Het
Esyt1	T	C	10: 128,347,771 (GRCm39)	E973G	probably benign	Het
Fbxl13	T	A	5: 21,826,499 (GRCm39)	M96L	possibly damaging	Het
Frem2	A	T	3: 53,479,869 (GRCm39)	F1941L	probably damaging	Het
Gbf1	T	C	19: 46,259,995 (GRCm39)	V1050A	probably benign	Het
Hecw1	T	C	13: 14,446,664 (GRCm39)	H721R	probably damaging	Het
Idh1	T	G	1: 65,207,690 (GRCm39)	Q163P	probably benign	Het
Kctd15	A	G	7: 34,341,348 (GRCm39)	V193A	probably benign	Het
Npas3	A	G	12: 54,115,673 (GRCm39)	Y834C	probably damaging	Het
Opn4	C	T	14: 34,316,788 (GRCm39)	V334I	probably benign	Het
Or10w3	A	T	19: 13,704,419 (GRCm39)	S265C	probably damaging	Het
Pcdhgc5	T	C	18: 37,954,583 (GRCm39)	F619S	probably damaging	Het
Pdlim2	G	T	14: 70,405,137 (GRCm39)	Q243K	probably damaging	Het
Pkd1	T	C	17: 24,800,200 (GRCm39)	L2987P	probably damaging	Het
Plcz1	A	G	6: 139,953,329 (GRCm39)		probably null	Het
Prpf6	C	T	2: 181,289,156 (GRCm39)	A615V	probably damaging	Het
Pwp1	T	C	10: 85,710,373 (GRCm39)	V5A	probably benign	Het
Rsph10b	T	A	5: 143,873,939 (GRCm39)	D13E	possibly damaging	Het
Slc44a3	T	A	3: 121,307,386 (GRCm39)	D200V	probably damaging	Het
Spata31h1	T	C	10: 82,119,588 (GRCm39)	Q4474R	probably benign	Het
St7l	T	C	3: 104,826,819 (GRCm39)		probably null	Het
Stc2	T	A	11: 31,310,346 (GRCm39)	D230V	probably damaging	Het
Syne2	C	A	12: 76,016,210 (GRCm39)	T3264K	probably benign	Het
Trp73	C	A	4: 154,148,854 (GRCm39)	D252Y	probably damaging	Het
Ubr1	T	C	2: 120,737,376 (GRCm39)	D1056G	probably benign	Het
Vcan	C	T	13: 89,839,339 (GRCm39)	W1108*	probably null	Het
Zfp772	G	T	7: 7,207,018 (GRCm39)	S224R	possibly damaging	Het
Zfp804b	A	T	5: 6,819,478 (GRCm39)	V1159E	probably damaging	Het
Zfp981	T	G	4: 146,621,970 (GRCm39)	S298R	probably benign	Het
Zmat3	A	G	3: 32,395,770 (GRCm39)	F246L	possibly damaging	Het
Zranb1	A	G	7: 132,585,633 (GRCm39)	T720A	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
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'- TGGAGACGTCATTCTTCTCTTG -3'
(R):5'- AGTCACTGCTGAGTAGTGGG -3'

Sequencing Primer
(F):5'- GAGACGTCATTCTTCTCTTGCATGC -3'
(R):5'- GAGTAGTGGGTTCTTTATTCAACAAG -3'

Posted On

2018-03-15