Mutagenetix > Incidental Mutations

Incidental Mutation 'R7115:Csn1s2a'

551718

Institutional Source

Beutler Lab

Gene Symbol

Csn1s2a

Ensembl Gene

ENSMUSG00000061937

Gene Name

casein alpha s2-like A

Synonyms

Csn1s2a, Csng

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R7115 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87774567-87788797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87781805 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 96 (C96R)

Ref Sequence

ENSEMBL: ENSMUSP00000075716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076379] [ENSMUST00000196585] [ENSMUST00000196749] [ENSMUST00000200322]

Predicted Effect

probably benign
Transcript: ENSMUST00000076379
AA Change: C96R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000075716
Gene: ENSMUSG00000061937
AA Change: C96R

Domain	Start	End	E-Value	Type
low complexity region	23	31	N/A	INTRINSIC
coiled coil region	58	86	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196585
AA Change: C81R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000143515
Gene: ENSMUSG00000061937
AA Change: C81R

Domain	Start	End	E-Value	Type
low complexity region	23	31	N/A	INTRINSIC
low complexity region	51	80	N/A	INTRINSIC
low complexity region	87	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196749
AA Change: C95R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000143715
Gene: ENSMUSG00000061937
AA Change: C95R

Domain	Start	End	E-Value	Type
low complexity region	23	31	N/A	INTRINSIC
coiled coil region	57	85	N/A	INTRINSIC
low complexity region	101	114	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200322
AA Change: C88R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000142901
Gene: ENSMUSG00000061937
AA Change: C88R

Domain	Start	End	E-Value	Type
low complexity region	23	31	N/A	INTRINSIC
low complexity region	51	57	N/A	INTRINSIC
low complexity region	72	87	N/A	INTRINSIC
low complexity region	94	107	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,437,725	I636N	probably benign	Het
Adam5	A	G	8: 24,781,696	I565T	possibly damaging	Het
Amd2	C	A	10: 35,711,637		probably benign	Het
Ap5m1	T	A	14: 49,086,270	Y472*	probably null	Het
Apcdd1	T	C	18: 62,936,953	F97S	probably damaging	Het
Axdnd1	T	C	1: 156,380,876	K267R		Het
BC067074	T	G	13: 113,320,776	S1119A		Het
Carf	G	T	1: 60,148,150	L637F	probably damaging	Het
Ccdc103	A	T	11: 102,883,810	S95C	possibly damaging	Het
Cfap20	T	C	8: 95,421,246	I156V	probably benign	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803		probably benign	Het
Dennd2a	G	A	6: 39,506,711	T405M	probably damaging	Het
Dennd5a	A	G	7: 109,894,754	Y1248H	probably damaging	Het
Dnah14	A	T	1: 181,720,145	K2504N	probably damaging	Het
Dnajb2	G	A	1: 75,243,662	G275D		Het
Elf3	T	G	1: 135,257,118	D110A	probably damaging	Het
Eomes	A	G	9: 118,484,489	N534S	probably benign	Het
Fry	A	T	5: 150,386,067	R659W	probably damaging	Het
Gm10428	G	A	11: 62,753,380	C94Y	unknown	Het
Gm2696	T	A	10: 77,836,299	C111S	unknown	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Lrp1b	T	A	2: 40,998,235	N2338Y		Het
Map2k1	A	G	9: 64,212,606	I139T	probably damaging	Het
Olfr44	T	C	9: 39,484,648	I202V	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,707	Y79C	probably benign	Het
Pxylp1	G	A	9: 96,825,010	T373I	probably benign	Het
Ranbp9	T	C	13: 43,406,671	N484S	probably benign	Het
Rassf5	A	G	1: 131,181,249	V293A	probably benign	Het
Ring1	A	G	17: 34,023,446	I29T	probably damaging	Het
Scn1a	G	A	2: 66,324,618	Q666*	probably null	Het
Spice1	G	A	16: 44,379,275	G697R	probably benign	Het
Tas2r131	A	G	6: 132,957,604	F81L	probably benign	Het
Tenm2	G	A	11: 36,163,817	S572L	probably damaging	Het
Tfr2	A	G	5: 137,571,715	T128A	probably benign	Het
Trim56	T	A	5: 137,113,660	Q334L	probably damaging	Het
Vmn2r44	T	A	7: 8,367,528	R840*	probably null	Het

Other mutations in Csn1s2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Csn1s2a	APN	5	87784580	missense	possibly damaging	0.83
IGL01829:Csn1s2a	APN	5	87786710	missense	unknown
R0137:Csn1s2a	UTSW	5	87778967	missense	possibly damaging	0.46
R1503:Csn1s2a	UTSW	5	87775799	missense	possibly damaging	0.66
R1799:Csn1s2a	UTSW	5	87778193	missense	probably damaging	0.97
R1870:Csn1s2a	UTSW	5	87778199	missense	probably benign	0.27
R2400:Csn1s2a	UTSW	5	87780155	critical splice donor site	probably null
R2897:Csn1s2a	UTSW	5	87781821	missense	unknown
R4034:Csn1s2a	UTSW	5	87781887	missense	probably benign	0.27
R4360:Csn1s2a	UTSW	5	87781841	missense	possibly damaging	0.46
R4377:Csn1s2a	UTSW	5	87775821	missense	probably benign
R4834:Csn1s2a	UTSW	5	87781778	missense	probably benign	0.27
R4965:Csn1s2a	UTSW	5	87781838	missense	possibly damaging	0.83
R6807:Csn1s2a	UTSW	5	87781872	missense	probably benign
R7353:Csn1s2a	UTSW	5	87785302	missense	possibly damaging	0.66
R7420:Csn1s2a	UTSW	5	87780006	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GGGTCCTAAATTAATGCCATCTGC -3'
(R):5'- ACACATGAATGGTTTTGCGTG -3'

Sequencing Primer
(F):5'- CTAAAATCCCCTTTAATGCATTGC -3'
(R):5'- CACATGAATGGTTTTGCGTGATTTAC -3'

Posted On

2019-05-15