Mutagenetix > Incidental Mutation

Incidental Mutation 'R5825:Pnma8a'

450127

Institutional Source

Beutler Lab

Gene Symbol

Pnma8a

Ensembl Gene

ENSMUSG00000041141

Gene Name

PNMA family member 8A

Synonyms

0710005I19Rik, Pnmal1, 4930488B01Rik

MMRRC Submission

044053-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R5825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16693604-16698532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16695020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 292 (S292G)

Ref Sequence

ENSEMBL: ENSMUSP00000040929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038163]

AlphaFold

Q80VM8

Predicted Effect

probably benign
Transcript: ENSMUST00000038163
AA Change: S292G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000040929
Gene: ENSMUSG00000041141
AA Change: S292G

Domain	Start	End	E-Value	Type
Pfam:PNMA	5	364	6.9e-108	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 95.3%
20x: 83.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,791,976 (GRCm39)	Y217*	probably null	Het
Abca2	A	T	2: 25,326,748 (GRCm39)	I567F	probably benign	Het
Acss2	T	A	2: 155,391,098 (GRCm39)		probably null	Het
Atxn7l2	C	A	3: 108,112,127 (GRCm39)	A320S	probably damaging	Het
Bfsp1	C	T	2: 143,669,379 (GRCm39)	G400D	probably benign	Het
Ces5a	G	T	8: 94,252,295 (GRCm39)	A199D	probably damaging	Het
Cfhr4	T	A	1: 139,702,336 (GRCm39)		probably null	Het
Chd2	A	T	7: 73,134,350 (GRCm39)		probably null	Het
Crebbp	A	G	16: 3,905,606 (GRCm39)	V1705A	probably damaging	Het
Cyp2j8	T	A	4: 96,395,451 (GRCm39)	Q58L	probably benign	Het
Dlec1	T	A	9: 118,972,036 (GRCm39)	I1379N	probably damaging	Het
Dnah9	T	C	11: 66,017,427 (GRCm39)	H593R	probably benign	Het
Ep300	T	A	15: 81,495,673 (GRCm39)	C412S	probably benign	Het
Fam110a	A	G	2: 151,811,961 (GRCm39)	S270P	probably damaging	Het
Gcc2	A	G	10: 58,130,643 (GRCm39)	T1412A	probably damaging	Het
Helz2	T	C	2: 180,874,449 (GRCm39)	E2015G	probably benign	Het
Hormad1	T	C	3: 95,469,870 (GRCm39)	V39A	probably damaging	Het
Igf2	G	T	7: 142,207,592 (GRCm39)	H168Q	probably damaging	Het
Il18rap	A	G	1: 40,570,726 (GRCm39)	T223A	probably benign	Het
Itpr2	T	C	6: 146,045,647 (GRCm39)	E2573G	probably damaging	Het
Jcad	T	A	18: 4,674,896 (GRCm39)	V886E	probably benign	Het
Klra1	T	C	6: 130,357,592 (GRCm39)	R12G	probably damaging	Het
Lamb1	A	G	12: 31,368,613 (GRCm39)	I1248V	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Mapk7	C	T	11: 61,381,207 (GRCm39)	R465Q	possibly damaging	Het
Mogs	T	C	6: 83,095,193 (GRCm39)	V670A	possibly damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Ninl	A	T	2: 150,782,644 (GRCm39)	I1182N	probably damaging	Het
Nup160	A	G	2: 90,510,114 (GRCm39)		probably null	Het
Nynrin	A	G	14: 56,101,683 (GRCm39)	R451G	probably benign	Het
Or12e7	A	G	2: 87,287,794 (GRCm39)	D95G	probably benign	Het
Or5h22	T	C	16: 58,895,024 (GRCm39)	I140V	probably benign	Het
Osbp	A	G	19: 11,948,085 (GRCm39)	T131A	probably damaging	Het
Pcdhga12	A	C	18: 37,901,556 (GRCm39)	D796A	possibly damaging	Het
Pcdhgb8	G	A	18: 37,895,289 (GRCm39)	V120I	probably benign	Het
Pdgfb	A	T	15: 79,881,869 (GRCm39)	V213E	probably benign	Het
Phldb2	T	C	16: 45,583,460 (GRCm39)	M1013V	probably benign	Het
Prrt4	A	G	6: 29,177,182 (GRCm39)	S196P	probably benign	Het
Rap1gds1	T	C	3: 138,661,136 (GRCm39)	M463V	possibly damaging	Het
Tmprss11g	A	T	5: 86,646,392 (GRCm39)	S58R	probably damaging	Het
Traf3	C	A	12: 111,221,795 (GRCm39)	Q319K	probably benign	Het
Trappc8	C	T	18: 21,006,977 (GRCm39)	V194M	probably damaging	Het
Tyw1	A	G	5: 130,296,929 (GRCm39)	K182R	probably damaging	Het
Usp48	A	G	4: 137,350,689 (GRCm39)	T585A	probably benign	Het
Xkr6	G	T	14: 64,056,481 (GRCm39)	V387L	probably benign	Het
Yod1	T	C	1: 130,646,743 (GRCm39)	W207R	probably damaging	Het
Zdhhc8	T	C	16: 18,046,538 (GRCm39)	S63G	probably null	Het
Zfp827	A	G	8: 79,905,645 (GRCm39)	E874G	probably damaging	Het
Zfy1	T	A	Y: 726,531 (GRCm39)	K411N	possibly damaging	Het

Other mutations in Pnma8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4737:Pnma8a	UTSW	7	16,695,350 (GRCm39)	small insertion	probably benign
R0116:Pnma8a	UTSW	7	16,694,625 (GRCm39)	missense	probably damaging	0.97
R0140:Pnma8a	UTSW	7	16,694,147 (GRCm39)	start codon destroyed	probably null	0.00
R1109:Pnma8a	UTSW	7	16,695,392 (GRCm39)	nonsense	probably null
R1306:Pnma8a	UTSW	7	16,695,950 (GRCm39)	missense	probably benign	0.00
R1426:Pnma8a	UTSW	7	16,694,909 (GRCm39)	missense	possibly damaging	0.56
R2000:Pnma8a	UTSW	7	16,694,964 (GRCm39)	missense	probably benign	0.01
R2404:Pnma8a	UTSW	7	16,694,316 (GRCm39)	missense	probably damaging	1.00
R3415:Pnma8a	UTSW	7	16,694,879 (GRCm39)	missense	possibly damaging	0.74
R3708:Pnma8a	UTSW	7	16,694,150 (GRCm39)	missense	probably damaging	1.00
R4009:Pnma8a	UTSW	7	16,695,301 (GRCm39)	missense	probably damaging	1.00
R4105:Pnma8a	UTSW	7	16,695,104 (GRCm39)	missense	possibly damaging	0.81
R5126:Pnma8a	UTSW	7	16,695,242 (GRCm39)	missense	probably benign	0.03
R5244:Pnma8a	UTSW	7	16,695,248 (GRCm39)	missense	probably damaging	0.99
R5931:Pnma8a	UTSW	7	16,694,809 (GRCm39)	missense	probably benign	0.31
R6128:Pnma8a	UTSW	7	16,694,661 (GRCm39)	missense	probably benign	0.00
R7337:Pnma8a	UTSW	7	16,695,315 (GRCm39)	missense	probably benign	0.35
R7756:Pnma8a	UTSW	7	16,695,224 (GRCm39)	missense	probably benign	0.27
R7758:Pnma8a	UTSW	7	16,695,224 (GRCm39)	missense	probably benign	0.27
R8687:Pnma8a	UTSW	7	16,694,520 (GRCm39)	missense	probably damaging	0.99
R8854:Pnma8a	UTSW	7	16,695,104 (GRCm39)	missense	possibly damaging	0.81
RF007:Pnma8a	UTSW	7	16,695,349 (GRCm39)	small insertion	probably benign
RF009:Pnma8a	UTSW	7	16,695,352 (GRCm39)	small insertion	probably benign
RF020:Pnma8a	UTSW	7	16,695,376 (GRCm39)	small insertion	probably benign
RF022:Pnma8a	UTSW	7	16,695,352 (GRCm39)	small insertion	probably benign
RF029:Pnma8a	UTSW	7	16,695,369 (GRCm39)	nonsense	probably null
RF039:Pnma8a	UTSW	7	16,695,369 (GRCm39)	small insertion	probably benign
RF041:Pnma8a	UTSW	7	16,695,369 (GRCm39)	nonsense	probably null
RF046:Pnma8a	UTSW	7	16,695,348 (GRCm39)	small insertion	probably benign
RF047:Pnma8a	UTSW	7	16,695,348 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGTGACCCTCCAAAACCTC -3'
(R):5'- GACAGGGATCTTGTTAGAGGC -3'

Sequencing Primer
(F):5'- AAACCTCTAGTTCGCAGGCCTG -3'
(R):5'- ATCTTGTTAGAGGCCCAGGTC -3'

Posted On

2016-12-20