Mutagenetix > Incidental Mutation

Incidental Mutation 'R8111:Pappa'

630860

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

067540-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8111 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65042411-65275746 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65180229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1030 (D1030G)

Ref Sequence

ENSEMBL: ENSMUSP00000081545 (fasta)

Gene Model

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

AlphaFold

Q8R4K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000084501
AA Change: D1030G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: D1030G

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: 98.7%
20x: 93.2%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,382,266 (GRCm39)	W1233*	probably null	Het
4930590J08Rik	A	G	6: 91,894,691 (GRCm39)	I247V	probably benign	Het
8030423J24Rik	T	A	13: 71,032,077 (GRCm39)	C50S	unknown	Het
Adam29	T	G	8: 56,324,585 (GRCm39)	H623P	probably benign	Het
Adamts5	A	G	16: 85,696,203 (GRCm39)	V318A	probably damaging	Het
Ano3	T	C	2: 110,614,058 (GRCm39)	D215G	possibly damaging	Het
Ap3b2	A	G	7: 81,113,530 (GRCm39)	I893T	unknown	Het
Apob	G	A	12: 8,058,801 (GRCm39)	A2428T	probably benign	Het
Armc3	T	C	2: 19,301,674 (GRCm39)	V660A	probably benign	Het
Atf7	G	T	15: 102,471,769 (GRCm39)	T42K	probably damaging	Het
Atg9a	A	T	1: 75,164,366 (GRCm39)	I160N	probably damaging	Het
Atp2b1	T	C	10: 98,832,786 (GRCm39)	V429A	possibly damaging	Het
Bpifb3	A	C	2: 153,764,609 (GRCm39)	H167P	probably benign	Het
Cacna1f	G	T	X: 7,487,326 (GRCm39)	E921D	probably damaging	Het
Ccdc57	T	A	11: 120,769,713 (GRCm39)	L713F	probably damaging	Het
Chd1l	C	T	3: 97,494,526 (GRCm39)	E385K	possibly damaging	Het
Csmd1	C	T	8: 15,967,306 (GRCm39)	V3186I	probably benign	Het
Dclre1c	T	A	2: 3,448,185 (GRCm39)	D349E	probably benign	Het
Dlg1	C	T	16: 31,661,620 (GRCm39)	T657M	possibly damaging	Het
Dync2h1	T	C	9: 7,148,688 (GRCm39)	I919V	probably benign	Het
Dync2i2	C	A	2: 29,921,859 (GRCm39)	A501S	possibly damaging	Het
Eml5	A	G	12: 98,758,773 (GRCm39)		probably null	Het
Epas1	C	A	17: 87,125,860 (GRCm39)	S286*	probably null	Het
Fat1	G	A	8: 45,479,095 (GRCm39)	V2714I	possibly damaging	Het
Fuca2	T	C	10: 13,390,545 (GRCm39)	M447T	probably benign	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gm11110	A	C	17: 57,410,427 (GRCm39)	C24G	probably null	Het
Gm6176	T	A	7: 21,750,593 (GRCm39)	I113F	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpat2	G	T	2: 127,275,777 (GRCm39)	L518F	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Hgsnat	C	T	8: 26,458,440 (GRCm39)	V195I	probably benign	Het
Hivep3	T	A	4: 119,955,583 (GRCm39)	S1300T	probably damaging	Het
Hs3st2	A	T	7: 120,992,362 (GRCm39)	H137L	probably damaging	Het
Iffo1	T	C	6: 125,122,781 (GRCm39)	S188P	possibly damaging	Het
Itih1	T	C	14: 30,654,225 (GRCm39)	D684G	probably damaging	Het
Lrba	C	A	3: 86,235,012 (GRCm39)	N852K	probably damaging	Het
Lrriq4	T	C	3: 30,709,930 (GRCm39)	S425P	possibly damaging	Het
Mdn1	T	A	4: 32,674,003 (GRCm39)	S562T	possibly damaging	Het
Mex3a	T	C	3: 88,444,064 (GRCm39)	V380A	probably benign	Het
Mgat4d	A	T	8: 84,094,776 (GRCm39)	N271I	probably damaging	Het
Mmp24	T	A	2: 155,649,345 (GRCm39)	V254E	possibly damaging	Het
Muc16	T	A	9: 18,503,925 (GRCm39)	R6455S	possibly damaging	Het
Npffr1	T	A	10: 61,459,128 (GRCm39)	V127E	probably damaging	Het
Obox5	T	A	7: 15,492,541 (GRCm39)	N165K	probably damaging	Het
Or10g3b	G	A	14: 52,587,344 (GRCm39)	T53M	possibly damaging	Het
Otulin	A	C	15: 27,606,381 (GRCm39)	V344G	probably damaging	Het
Pdzd2	G	A	15: 12,373,592 (GRCm39)	S2181L	probably benign	Het
Ppp2r3c	C	A	12: 55,344,634 (GRCm39)	M111I	probably benign	Het
Prss37	T	C	6: 40,494,747 (GRCm39)	T13A	probably benign	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sgo2b	T	A	8: 64,396,138 (GRCm39)	K39N	probably damaging	Het
Sike1	T	C	3: 102,909,123 (GRCm39)	*208Q	probably null	Het
Spire1	A	G	18: 67,652,391 (GRCm39)	S229P	probably damaging	Het
Tmem132b	A	G	5: 125,699,857 (GRCm39)	I132V	probably benign	Het
Umodl1	T	C	17: 31,190,792 (GRCm39)	V213A	probably damaging	Het
Washc1	C	G	17: 66,423,033 (GRCm39)	Q116E	probably benign	Het
Zfp553	T	A	7: 126,836,093 (GRCm39)	C549*	probably null	Het
Zfp9	G	A	6: 118,441,561 (GRCm39)	P367L	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
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
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'- GTCTATTCCAGAGCTGCTGC -3'
(R):5'- TGGCTAAAGTTTCGCTCAGGTAG -3'

Sequencing Primer
(F):5'- CTGCTGCTGAGAGTTAATGCCAG -3'
(R):5'- CAGGTAGAGATGTTCTGTGACAC -3'

Posted On

2020-06-30