Mutagenetix > Incidental Mutation

Incidental Mutation 'R1856:Pappa'

206098

Institutional Source

Beutler Lab

Gene Symbol

Pappa

Ensembl Gene

ENSMUSG00000028370

Gene Name

pregnancy-associated plasma protein A

Synonyms

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

MMRRC Submission

039880-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65124174-65357509 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65340743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1576 (D1576V)

Ref Sequence

ENSEMBL: ENSMUSP00000081545 (fasta)

Gene Model

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

AlphaFold

Q8R4K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000084501
AA Change: D1576V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: D1576V

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: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	G	7: 120,278,181	F1017L	probably damaging	Het
Abcb11	A	C	2: 69,245,923	V1147G	probably damaging	Het
Abcc10	T	A	17: 46,306,603	S1128C	probably damaging	Het
Adam6a	G	A	12: 113,545,303	C432Y	probably damaging	Het
Adamdec1	C	T	14: 68,570,948	V318M	probably damaging	Het
Ahnak	C	A	19: 9,002,048	S232Y	possibly damaging	Het
Amt	A	C	9: 108,297,162	H42P	probably damaging	Het
Anapc1	A	T	2: 128,659,788	L778Q	probably damaging	Het
Ankhd1	G	A	18: 36,644,527	A1588T	probably benign	Het
Anln	A	T	9: 22,353,331	L881Q	probably damaging	Het
Appl1	A	G	14: 26,927,749	S607P	probably damaging	Het
Arg2	G	T	12: 79,147,662	V87L	probably benign	Het
Atp13a2	C	T	4: 141,004,012	P869L	probably benign	Het
Atxn7l1	T	A	12: 33,358,770	D310E	probably damaging	Het
Cd6	A	T	19: 10,798,602	D164E	probably damaging	Het
Cdan1	C	A	2: 120,724,936	V775L	probably benign	Het
Cep164	A	T	9: 45,775,758		probably null	Het
Cep41	A	G	6: 30,661,006	S61P	probably damaging	Het
Clcn7	C	A	17: 25,160,471	D764E	probably damaging	Het
Cog2	G	A	8: 124,551,403	G703S	possibly damaging	Het
Cramp1l	T	C	17: 24,968,978	D1214G	probably damaging	Het
Cst7	G	T	2: 150,577,708	C98F	probably damaging	Het
Ctc1	T	A	11: 69,034,658	L1007Q	probably damaging	Het
Cyb5r4	G	A	9: 87,022,209	A11T	possibly damaging	Het
Dcaf8	A	G	1: 172,175,553	D306G	probably damaging	Het
Defb38	T	A	8: 19,023,576	K27I	probably benign	Het
Disp3	T	C	4: 148,271,632	E257G	probably damaging	Het
Dnajc6	T	C	4: 101,598,988	S58P	probably damaging	Het
Dock10	A	T	1: 80,606,568	D140E	possibly damaging	Het
Dopey1	T	C	9: 86,492,004	V172A	probably damaging	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Eci3	C	T	13: 34,953,028	A171T	possibly damaging	Het
Eml2	A	G	7: 19,194,061	D284G	probably damaging	Het
Eml5	T	C	12: 98,810,584	D1377G	probably damaging	Het
Fam186a	T	C	15: 99,940,302	E2687G	possibly damaging	Het
Fut9	A	C	4: 25,620,352	L154R	probably damaging	Het
Gabrb2	A	G	11: 42,626,713	N454S	probably benign	Het
Gm438	T	A	4: 144,777,883	M233L	probably benign	Het
Gpr183	T	A	14: 121,954,741	I123L	probably benign	Het
Gucy1b1	A	T	3: 82,058,352	N62K	probably benign	Het
Hcrtr2	T	C	9: 76,259,785	N90S	probably damaging	Het
Hectd1	A	T	12: 51,744,794	L2556Q	probably damaging	Het
Hfm1	T	A	5: 106,847,676	M1290L	probably benign	Het
Hgsnat	A	G	8: 25,957,256	W337R	probably benign	Het
Hmbox1	T	C	14: 64,828,648	Y291C	probably damaging	Het
Hmcn1	T	C	1: 150,721,664	N1749S	probably benign	Het
Igsf10	T	C	3: 59,331,272	D496G	possibly damaging	Het
Iqch	C	T	9: 63,534,337		probably null	Het
Irf6	A	G	1: 193,167,535	D255G	probably benign	Het
Kif9	G	A	9: 110,517,719	G642R	probably null	Het
Klhl20	A	G	1: 161,106,742	Y236H	probably benign	Het
Krt39	T	A	11: 99,519,088	K208*	probably null	Het
Lama3	T	A	18: 12,537,781	L808*	probably null	Het
Lrp5	C	T	19: 3,597,346	A1299T	probably benign	Het
Lysmd4	A	G	7: 67,226,231	Q214R	probably benign	Het
Macf1	T	A	4: 123,369,848	E6960V	probably damaging	Het
Mcpt2	A	G	14: 56,043,699	E120G	probably benign	Het
Mpeg1	A	G	19: 12,462,356	T393A	probably benign	Het
Myh4	G	A	11: 67,255,682	E1494K	probably damaging	Het
Nbas	T	G	12: 13,474,229	S1695R	possibly damaging	Het
Nlgn1	G	T	3: 25,440,037	Y249*	probably null	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Nup107	A	G	10: 117,750,906	L910P	probably damaging	Het
Obscn	T	A	11: 59,040,296	D5838V	probably damaging	Het
Olfr1218	G	A	2: 89,054,859	T189M	possibly damaging	Het
Olfr347	T	C	2: 36,734,345	I8T	probably benign	Het
Olfr926	T	C	9: 38,877,596	I140T	possibly damaging	Het
Olfr978	T	C	9: 39,994,359	I183T	probably benign	Het
Otogl	G	T	10: 107,854,264	S915Y	possibly damaging	Het
P2rx7	T	A	5: 122,681,032	C506S	probably damaging	Het
P4hb	T	C	11: 120,563,218	E350G	probably benign	Het
Papolg	A	T	11: 23,867,379	V606E	probably benign	Het
Pclo	G	T	5: 14,778,552	V1402F	probably damaging	Het
Pdcd11	A	G	19: 47,098,187	T211A	probably benign	Het
Pdzd2	T	C	15: 12,373,855	R2065G	possibly damaging	Het
Plcl2	T	C	17: 50,607,850	V629A	probably benign	Het
Prkcsh	G	A	9: 22,004,575	V92I	possibly damaging	Het
Prpf19	G	T	19: 10,902,416	V320F	probably damaging	Het
Ptpn3	T	A	4: 57,239,682	I283F	probably damaging	Het
Rcc2	T	A	4: 140,720,604	D480E	probably benign	Het
Rnf182	G	A	13: 43,668,042	C23Y	probably damaging	Het
Rnf186	C	T	4: 138,967,362	T71I	probably benign	Het
Scyl3	A	G	1: 163,933,696		probably null	Het
Slc12a6	G	T	2: 112,335,927		probably null	Het
Slc1a2	C	A	2: 102,777,567	S520Y	probably damaging	Het
Slc35e2	T	A	4: 155,611,729	L191Q	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Snx33	T	C	9: 56,926,011	H258R	possibly damaging	Het
Tecpr2	A	T	12: 110,933,064	H622L	probably benign	Het
Thbs3	A	T	3: 89,226,406	E888D	probably damaging	Het
Tlk2	T	C	11: 105,221,298	L159P	probably benign	Het
Tmem70	A	T	1: 16,677,273	T205S	probably damaging	Het
Trappc10	T	A	10: 78,196,451	H1001L	probably benign	Het
Trim12a	T	C	7: 104,300,857	T292A	probably benign	Het
Trip11	G	A	12: 101,883,333	R92*	probably null	Het
Trpa1	G	A	1: 14,899,388	Q386*	probably null	Het
Trpc4	T	A	3: 54,279,989	V454D	probably damaging	Het
Ttc36	A	T	9: 44,802,754	D22E	probably benign	Het
Ttk	A	T	9: 83,869,263	I798F	probably damaging	Het
Ttn	T	C	2: 76,743,633	I17312V	probably damaging	Het
Txndc15	A	T	13: 55,718,062	E113V	possibly damaging	Het
Ube2d4	T	A	15: 58,846,599		noncoding transcript	Het
Urb1	T	A	16: 90,761,695	T1723S	probably benign	Het
Vmn1r65	A	T	7: 6,008,266	V323D	possibly damaging	Het
Vmn2r54	A	G	7: 12,632,311	M232T	probably benign	Het
Wdr59	A	G	8: 111,476,181	S577P	probably damaging	Het
Wfikkn2	C	T	11: 94,238,123	W397*	probably null	Het
Ypel1	T	A	16: 17,081,647		probably null	Het
Ythdf1	T	A	2: 180,910,970	D484V	probably damaging	Het
Zdhhc17	A	G	10: 110,947,293		probably null	Het
Zfp472	A	T	17: 32,965,913	H2L	possibly damaging	Het
Zfp953	A	T	13: 67,345,358	M74K	probably benign	Het
Zmat4	C	T	8: 23,929,135	T61M	probably benign	Het

Other mutations in Pappa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Pappa	APN	4	65189316	missense	probably damaging	1.00
IGL01340:Pappa	APN	4	65323872	missense	possibly damaging	0.49
IGL01482:Pappa	APN	4	65156034	missense	probably benign	0.18
IGL01485:Pappa	APN	4	65189299	missense	probably damaging	0.96
IGL01759:Pappa	APN	4	65205158	splice site	probably null
IGL01860:Pappa	APN	4	65205092	missense	possibly damaging	0.50
IGL01990:Pappa	APN	4	65156687	splice site	probably benign
IGL02089:Pappa	APN	4	65156124	missense	possibly damaging	0.75
IGL02153:Pappa	APN	4	65297437	missense	probably damaging	0.96
IGL02184:Pappa	APN	4	65340691	missense	possibly damaging	0.82
IGL02324:Pappa	APN	4	65196808	missense	probably damaging	0.99
IGL02542:Pappa	APN	4	65176281	missense	probably damaging	1.00
IGL02556:Pappa	APN	4	65156626	missense	possibly damaging	0.56
IGL02698:Pappa	APN	4	65181020	missense	probably damaging	1.00
IGL02903:Pappa	APN	4	65261980	missense	probably damaging	1.00
IGL02974:Pappa	APN	4	65204935	missense	probably damaging	1.00
IGL03107:Pappa	APN	4	65204703	missense	probably damaging	1.00
IGL03376:Pappa	APN	4	65196834	missense	probably benign	0.01
caer	UTSW	4	65124891	missense	probably damaging	0.98
Maennel	UTSW	4	65314587	missense	probably benign	0.05
maennelein	UTSW	4	65314796	splice site	probably null
mama	UTSW	4	65204867	missense	possibly damaging	0.94
Revisitation	UTSW	4	65294468	missense	probably damaging	0.96
Sesquester	UTSW	4	65156375	missense	possibly damaging	0.66
untersuchen	UTSW	4	65297257	missense	probably damaging	1.00
IGL02980:Pappa	UTSW	4	65307774	missense	probably benign	0.25
PIT4498001:Pappa	UTSW	4	65316232	missense	probably damaging	1.00
R0077:Pappa	UTSW	4	65307812	missense	probably damaging	1.00
R0390:Pappa	UTSW	4	65351613	splice site	probably null
R0458:Pappa	UTSW	4	65155882	missense	probably damaging	1.00
R0883:Pappa	UTSW	4	65189315	nonsense	probably null
R0946:Pappa	UTSW	4	65314792	critical splice donor site	probably null
R1228:Pappa	UTSW	4	65340689	missense	probably damaging	1.00
R1327:Pappa	UTSW	4	65351603	splice site	probably benign
R1489:Pappa	UTSW	4	65180948	missense	possibly damaging	0.85
R1619:Pappa	UTSW	4	65176229	missense	probably damaging	1.00
R2047:Pappa	UTSW	4	65231141	splice site	probably benign
R2102:Pappa	UTSW	4	65316228	nonsense	probably null
R2127:Pappa	UTSW	4	65297257	missense	probably damaging	1.00
R2143:Pappa	UTSW	4	65180949	nonsense	probably null
R2144:Pappa	UTSW	4	65180949	nonsense	probably null
R2166:Pappa	UTSW	4	65156445	missense	probably damaging	1.00
R2167:Pappa	UTSW	4	65156445	missense	probably damaging	1.00
R2168:Pappa	UTSW	4	65156445	missense	probably damaging	1.00
R2178:Pappa	UTSW	4	65351687	missense	probably benign	0.00
R2504:Pappa	UTSW	4	65180889	nonsense	probably null
R4043:Pappa	UTSW	4	65314587	missense	probably benign	0.05
R4289:Pappa	UTSW	4	65155863	missense	probably benign	0.19
R4415:Pappa	UTSW	4	65305295	missense	probably benign	0.00
R4529:Pappa	UTSW	4	65231182	missense	probably benign
R4620:Pappa	UTSW	4	65327028	missense	probably benign	0.43
R4657:Pappa	UTSW	4	65314796	splice site	probably null
R4658:Pappa	UTSW	4	65314796	splice site	probably null
R5074:Pappa	UTSW	4	65205128	missense	probably benign	0.15
R5200:Pappa	UTSW	4	65155839	missense	probably damaging	1.00
R5420:Pappa	UTSW	4	65335780	critical splice donor site	probably null
R5469:Pappa	UTSW	4	65205152	missense	probably benign	0.01
R5651:Pappa	UTSW	4	65156352	missense	probably damaging	0.99
R5725:Pappa	UTSW	4	65189410	missense	probably damaging	1.00
R5941:Pappa	UTSW	4	65314593	missense	possibly damaging	0.52
R6002:Pappa	UTSW	4	65297408	missense	probably damaging	0.99
R6252:Pappa	UTSW	4	65189412	missense	probably benign	0.02
R6303:Pappa	UTSW	4	65204654	missense	probably damaging	1.00
R6322:Pappa	UTSW	4	65314659	missense	probably damaging	1.00
R6431:Pappa	UTSW	4	65156464	missense	probably damaging	1.00
R6462:Pappa	UTSW	4	65124891	missense	probably damaging	0.98
R6484:Pappa	UTSW	4	65314659	missense	probably damaging	1.00
R6537:Pappa	UTSW	4	65297282	missense	probably damaging	0.99
R6578:Pappa	UTSW	4	65156137	missense	possibly damaging	0.48
R6704:Pappa	UTSW	4	65204924	missense	probably damaging	1.00
R6789:Pappa	UTSW	4	65181041	missense	probably damaging	1.00
R7023:Pappa	UTSW	4	65351718	missense	probably benign	0.00
R7139:Pappa	UTSW	4	65189450	missense	probably benign	0.30
R7158:Pappa	UTSW	4	65204867	missense	possibly damaging	0.94
R7165:Pappa	UTSW	4	65261873	missense	probably damaging	1.00
R7196:Pappa	UTSW	4	65323891	splice site	probably null
R7410:Pappa	UTSW	4	65335719	missense	probably damaging	1.00
R7457:Pappa	UTSW	4	65189266	missense	probably damaging	1.00
R7506:Pappa	UTSW	4	65231182	missense	probably benign	0.00
R7546:Pappa	UTSW	4	65156115	missense	possibly damaging	0.48
R7975:Pappa	UTSW	4	65294468	missense	probably damaging	0.96
R8111:Pappa	UTSW	4	65261992	missense	probably damaging	0.99
R8260:Pappa	UTSW	4	65316182	missense	probably damaging	0.99
R8347:Pappa	UTSW	4	65327065	missense	probably damaging	1.00
R8520:Pappa	UTSW	4	65335764	missense	probably benign	0.01
R8812:Pappa	UTSW	4	65204929	missense	possibly damaging	0.94
R8815:Pappa	UTSW	4	65181110	missense	probably benign	0.00
R9008:Pappa	UTSW	4	65156189	missense	probably damaging	1.00
R9162:Pappa	UTSW	4	65204803	missense	probably damaging	1.00
R9170:Pappa	UTSW	4	65340725	missense	probably damaging	1.00
R9205:Pappa	UTSW	4	65156375	missense	possibly damaging	0.66
R9336:Pappa	UTSW	4	65124681	missense	unknown
R9389:Pappa	UTSW	4	65180888	missense	probably damaging	1.00
R9781:Pappa	UTSW	4	65124867	missense	possibly damaging	0.89
RF006:Pappa	UTSW	4	65323873	missense	probably benign	0.00
RF020:Pappa	UTSW	4	65205045	missense	possibly damaging	0.77
X0058:Pappa	UTSW	4	65156232	missense	probably damaging	1.00
X0060:Pappa	UTSW	4	65124941	missense	probably benign	0.00
Z1177:Pappa	UTSW	4	65307758	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGGATTGAAAGCCAAGTTGG -3'
(R):5'- CCTTTGCAAAGACCAGCTAGC -3'

Sequencing Primer
(F):5'- CCAAGTTGGCTGGTGATGGAG -3'
(R):5'- GACCAGCTAGCACTCTGTATATG -3'

Posted On

2014-06-23