Mutagenetix > Incidental Mutation

Incidental Mutation 'R4649:Csmd2'

350573

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

041910-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R4649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128546073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 3107 (V3107M)

Ref Sequence

ENSEMBL: ENSMUSP00000138958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000184063]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139561

Predicted Effect

probably benign
Transcript: ENSMUST00000184063
AA Change: V3107M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,606,215	E168K	unknown	Het
Abca4	G	T	3: 122,169,893	V841F	probably damaging	Het
Adcy10	G	A	1: 165,504,049	E84K	probably damaging	Het
Adgrg6	C	A	10: 14,468,827	M127I	probably damaging	Het
Agpat5	A	G	8: 18,879,652	I266V	possibly damaging	Het
Agtpbp1	A	T	13: 59,528,399	Y186N	possibly damaging	Het
Alx1	A	T	10: 103,009,332	N279K	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Arsi	A	G	18: 60,917,098	Y351C	probably damaging	Het
B4galnt3	T	A	6: 120,224,620	R155W	probably damaging	Het
BC028528	T	C	3: 95,888,265	E75G	probably damaging	Het
Bmp2k	C	T	5: 97,053,111	P297S	possibly damaging	Het
Btnl4	A	G	17: 34,472,628	S296P	probably benign	Het
Bzw2	A	T	12: 36,123,981	V98E	probably null	Het
Cacna1d	C	T	14: 30,095,408	M1232I	probably benign	Het
Cast	A	G	13: 74,746,014	S171P	probably benign	Het
Catsperb	G	A	12: 101,541,512	A513T	probably benign	Het
Cd19	A	G	7: 126,414,492	S42P	probably benign	Het
Chml	A	G	1: 175,687,396	S138P	probably benign	Het
Clic6	T	G	16: 92,530,939		probably null	Het
Col12a1	A	T	9: 79,639,794	V2252E	probably damaging	Het
Cplx2	G	A	13: 54,379,548	E82K	probably benign	Het
Cspg4	T	A	9: 56,886,865	V628D	possibly damaging	Het
Dcaf13	G	A	15: 39,138,242	R315Q	possibly damaging	Het
Deaf1	A	G	7: 141,297,573	V547A	possibly damaging	Het
Dmxl1	C	T	18: 49,878,631	T1285I	probably damaging	Het
Dnah3	C	A	7: 120,047,698	W1036L	probably damaging	Het
Dpy19l1	A	C	9: 24,482,054	S140A	possibly damaging	Het
Dsg2	T	A	18: 20,602,245	D1093E	possibly damaging	Het
Edaradd	T	A	13: 12,508,423	H12L	probably damaging	Het
Enam	T	C	5: 88,492,968	M163T	probably benign	Het
Fbxo22	T	A	9: 55,221,049	V218E	probably damaging	Het
Fbxo34	A	T	14: 47,529,628	K148N	probably damaging	Het
Foxi3	A	G	6: 70,956,976	D149G	probably damaging	Het
Gbp8	C	T	5: 105,041,941	G75D	probably damaging	Het
Gm10784	C	T	13: 49,945,215		noncoding transcript	Het
Gm11127	T	C	17: 36,057,876	Y104C	possibly damaging	Het
Gm7247	G	A	14: 51,569,594		probably null	Het
Grik3	T	A	4: 125,650,485	V333E	probably damaging	Het
Gsap	A	T	5: 21,226,311	D211V	probably damaging	Het
Ino80	T	C	2: 119,431,008	N725S	probably damaging	Het
Itgad	A	G	7: 128,189,531	I443V	probably benign	Het
Itsn1	T	A	16: 91,841,588	I52N	probably damaging	Het
Kmt2b	TCTCCTCCTCCTCCTCCTCCTCCTCC	TCTCCTCCTCCTCCTCCTCCTCC	7: 30,586,358		probably benign	Het
Lamc1	T	G	1: 153,228,777	S59R	probably damaging	Het
Lrrk1	T	C	7: 66,273,053	I1366V	probably benign	Het
Lyn	C	A	4: 3,738,850	Q41K	probably benign	Het
Mapk13	C	T	17: 28,778,487	R360*	probably null	Het
Mapk8ip3	T	A	17: 24,904,752	I599F	probably damaging	Het
Me1	T	C	9: 86,679,852	K60R	probably benign	Het
Mga	T	A	2: 119,941,493	D1532E	possibly damaging	Het
Miga1	G	A	3: 152,279,005	S427L	probably benign	Het
Mknk2	A	T	10: 80,669,339	V186E	probably damaging	Het
Myo1a	C	A	10: 127,710,217	N236K	probably benign	Het
Myt1	A	G	2: 181,797,414	D243G	probably benign	Het
Ncf4	T	C	15: 78,255,989	V196A	possibly damaging	Het
Nlrp5	G	T	7: 23,418,178	L442F	probably damaging	Het
Olfm4	G	A	14: 80,021,307	D332N	probably benign	Het
Olfr1254	C	A	2: 89,789,293	V20F	probably benign	Het
Olfr32	T	A	2: 90,139,088	D17V	probably damaging	Het
Osbpl11	T	A	16: 33,196,082	M69K	probably benign	Het
Oxnad1	T	A	14: 32,102,409	*312K	probably null	Het
Plekhg1	A	G	10: 3,956,985	Q634R	probably benign	Het
Plekhh2	T	C	17: 84,575,263	Y733H	probably damaging	Het
Ppp1r21	A	G	17: 88,549,513	H132R	probably benign	Het
Prkcq	T	C	2: 11,279,522	V501A	possibly damaging	Het
Prpf38b	G	A	3: 108,904,092		probably benign	Het
Prpf4b	A	T	13: 34,899,971	M908L	probably benign	Het
Prps2	T	C	X: 167,352,292	D183G	probably damaging	Het
Pudp	T	C	18: 50,568,188	D158G	probably damaging	Het
R3hdm1	T	C	1: 128,184,444	S422P	probably damaging	Het
Ranbp3	T	A	17: 56,696,640		probably null	Het
Ranbp6	A	G	19: 29,810,321	V877A	probably benign	Het
Rgsl1	A	T	1: 153,817,582	S618T	probably benign	Het
Rhox2a	G	C	X: 37,245,309	R43P	probably benign	Het
Rhox2a	A	T	X: 37,245,362	I61L	probably benign	Het
Rnf207	A	C	4: 152,312,155	D466E	probably benign	Het
Rnf7	A	G	9: 96,471,830	I80T	probably benign	Het
Ros1	T	A	10: 52,129,668	I878F	possibly damaging	Het
Rsbn1	T	A	3: 103,953,780		probably null	Het
Sbk1	T	C	7: 126,291,129	S105P	probably damaging	Het
Sdk1	T	C	5: 142,006,625	Y790H	probably damaging	Het
Sec62	T	A	3: 30,810,534	N182K	unknown	Het
Slc15a1	T	C	14: 121,478,092	Y345C	probably damaging	Het
Slc27a1	G	A	8: 71,570,764	A15T	probably benign	Het
Slc35d1	A	G	4: 103,213,229	F110L	probably damaging	Het
Slc39a5	T	A	10: 128,397,267	S333C	probably benign	Het
Tarbp1	A	G	8: 126,447,195	S927P	probably damaging	Het
Tns1	A	G	1: 73,953,771	S583P	probably damaging	Het
Trim38	A	T	13: 23,782,969	D133V	probably damaging	Het
Trim40	T	C	17: 36,882,639		probably null	Het
Trim42	C	A	9: 97,362,945	V601L	probably benign	Het
Trpc7	G	A	13: 56,887,554	R189C	probably damaging	Het
Ttc29	A	T	8: 78,333,579	Y376F	probably benign	Het
Vmn2r63	A	G	7: 42,903,690	I714T	possibly damaging	Het
Vmn2r68	C	A	7: 85,221,535	A847S	probably benign	Het
Wdr63	A	G	3: 146,048,167	S713P	probably damaging	Het
Zbp1	G	A	2: 173,207,815	P385S	possibly damaging	Het
Zfat	A	G	15: 68,184,476	Y237H	probably damaging	Het
Zfp236	A	T	18: 82,597,659	W1840R	probably damaging	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp462	T	A	4: 55,009,349	N438K	probably benign	Het
Zfp952	T	A	17: 33,002,925	V88E	probably damaging	Het
Znfx1	G	T	2: 167,056,356	A216D	probably benign	Het

Other mutations in Csmd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Csmd2	APN	4	128483473	missense	probably benign	0.03
IGL01098:Csmd2	APN	4	128059052	missense	probably damaging	0.99
IGL01114:Csmd2	APN	4	128369130	missense	probably benign	0.04
IGL01364:Csmd2	APN	4	128414288	missense	probably benign	0.01
IGL01530:Csmd2	APN	4	128414301	missense	possibly damaging	0.66
IGL01582:Csmd2	APN	4	128563305	nonsense	probably null
IGL01670:Csmd2	APN	4	128513371	splice site	probably benign
IGL01707:Csmd2	APN	4	128383005	missense	possibly damaging	0.81
IGL01810:Csmd2	APN	4	128480845	splice site	probably benign
IGL01837:Csmd2	APN	4	128419570	missense	possibly damaging	0.92
IGL01924:Csmd2	APN	4	128559947	missense	unknown
IGL02013:Csmd2	APN	4	128321323	missense	possibly damaging	0.47
IGL02020:Csmd2	APN	4	128559879	missense	probably damaging	1.00
IGL02037:Csmd2	APN	4	128477470	splice site	probably benign
IGL02303:Csmd2	APN	4	128369008	missense	probably benign	0.01
IGL02317:Csmd2	APN	4	128463727	splice site	probably benign
IGL02322:Csmd2	APN	4	128463727	splice site	probably benign
IGL02338:Csmd2	APN	4	128395066	missense	possibly damaging	0.79
IGL02412:Csmd2	APN	4	128513372	splice site	probably benign
IGL02428:Csmd2	APN	4	128474816	missense	possibly damaging	0.82
IGL02491:Csmd2	APN	4	128534257	missense	probably benign
IGL02701:Csmd2	APN	4	128496141	missense	probably benign	0.17
IGL02801:Csmd2	APN	4	128552075	splice site	probably null
IGL02818:Csmd2	APN	4	128209728	missense	probably damaging	1.00
IGL02863:Csmd2	APN	4	128521884	missense	probably benign	0.00
IGL02876:Csmd2	APN	4	128321335	nonsense	probably null
IGL02977:Csmd2	APN	4	128493276	nonsense	probably null
IGL03006:Csmd2	APN	4	128480765	splice site	probably benign
IGL03032:Csmd2	APN	4	128519041	missense	probably benign	0.03
IGL03148:Csmd2	APN	4	128384269	missense	probably damaging	1.00
IGL03157:Csmd2	APN	4	128414299	nonsense	probably null
IGL03245:Csmd2	APN	4	128509122	missense	probably benign	0.12
IGL03376:Csmd2	APN	4	128517671	missense	probably benign	0.03
IGL03014:Csmd2	UTSW	4	128296429	missense	probably benign	0.01
R0109:Csmd2	UTSW	4	128544743	missense	probably benign	0.03
R0112:Csmd2	UTSW	4	128496029	missense	probably damaging	1.00
R0157:Csmd2	UTSW	4	128521911	missense	probably benign	0.02
R0390:Csmd2	UTSW	4	128133673	intron	probably benign
R0441:Csmd2	UTSW	4	128520230	missense	probably benign	0.00
R0519:Csmd2	UTSW	4	128487005	missense	possibly damaging	0.95
R0743:Csmd2	UTSW	4	128113676	missense	probably benign	0.00
R0746:Csmd2	UTSW	4	128414297	missense	probably damaging	1.00
R0973:Csmd2	UTSW	4	128496188	missense	possibly damaging	0.91
R1019:Csmd2	UTSW	4	128522014	missense	probably benign	0.00
R1476:Csmd2	UTSW	4	128487001	missense	probably benign	0.08
R1641:Csmd2	UTSW	4	128483395	missense	possibly damaging	0.68
R1709:Csmd2	UTSW	4	128496195	missense	probably damaging	0.96
R2866:Csmd2	UTSW	4	128414392	critical splice donor site	probably null
R2870:Csmd2	UTSW	4	128557718	missense	unknown
R2870:Csmd2	UTSW	4	128557718	missense	unknown
R2871:Csmd2	UTSW	4	128557718	missense	unknown
R2871:Csmd2	UTSW	4	128557718	missense	unknown
R2872:Csmd2	UTSW	4	128557718	missense	unknown
R2872:Csmd2	UTSW	4	128557718	missense	unknown
R2873:Csmd2	UTSW	4	128557718	missense	unknown
R2893:Csmd2	UTSW	4	128538993	splice site	probably null
R3796:Csmd2	UTSW	4	128517595	missense	probably benign	0.20
R3797:Csmd2	UTSW	4	128517595	missense	probably benign	0.20
R3798:Csmd2	UTSW	4	128517595	missense	probably benign	0.20
R3914:Csmd2	UTSW	4	128321324	missense	probably benign	0.07
R4198:Csmd2	UTSW	4	128510924	missense	probably benign	0.07
R4489:Csmd2	UTSW	4	128381945	missense	possibly damaging	0.68
R4571:Csmd2	UTSW	4	128480095	splice site	probably null
R4581:Csmd2	UTSW	4	128369088	missense	probably benign	0.02
R4599:Csmd2	UTSW	4	127988128	missense	probably benign	0.35
R4706:Csmd2	UTSW	4	128544751	missense	probably benign
R4776:Csmd2	UTSW	4	128442892	missense	probably benign	0.09
R4838:Csmd2	UTSW	4	128517749	missense	probably benign
R4900:Csmd2	UTSW	4	128452525	missense	probably benign	0.03
R4999:Csmd2	UTSW	4	128521930	missense	probably benign	0.00
R5024:Csmd2	UTSW	4	128321348	missense	possibly damaging	0.94
R5034:Csmd2	UTSW	4	128059108	missense	probably damaging	0.98
R5152:Csmd2	UTSW	4	128552035	missense	probably benign	0.27
R5172:Csmd2	UTSW	4	128477397	missense	probably benign	0.10
R5231:Csmd2	UTSW	4	128546049	missense	probably benign	0.00
R5279:Csmd2	UTSW	4	128456914	missense	probably benign	0.30
R5287:Csmd2	UTSW	4	128486884	missense	probably benign	0.01
R5403:Csmd2	UTSW	4	128486884	missense	probably benign	0.01
R5410:Csmd2	UTSW	4	128548819	missense	probably benign
R5551:Csmd2	UTSW	4	128510948	missense	possibly damaging	0.83
R5566:Csmd2	UTSW	4	128462889	critical splice donor site	probably null
R5826:Csmd2	UTSW	4	128519199	splice site	probably null
R5907:Csmd2	UTSW	4	128197385	missense	probably damaging	0.99
R5913:Csmd2	UTSW	4	128551988	missense	probably benign	0.01
R5970:Csmd2	UTSW	4	128546151	missense	probably benign	0.00
R5977:Csmd2	UTSW	4	128059034	missense	probably damaging	1.00
R6027:Csmd2	UTSW	4	128559946	missense	unknown
R6075:Csmd2	UTSW	4	128486865	missense	probably benign	0.15
R6129:Csmd2	UTSW	4	128493334	missense	possibly damaging	0.79
R6363:Csmd2	UTSW	4	128400379	missense	probably benign	0.00
R6366:Csmd2	UTSW	4	128483452	missense	probably benign	0.00
R6404:Csmd2	UTSW	4	128521950	missense	possibly damaging	0.90
R6437:Csmd2	UTSW	4	127988100	missense	probably benign	0.24
R6441:Csmd2	UTSW	4	128394964	missense	probably benign	0.03
R6643:Csmd2	UTSW	4	128372597	missense	probably benign	0.14
R6724:Csmd2	UTSW	4	128563371	missense	probably damaging	0.97
R6734:Csmd2	UTSW	4	128463813	missense	probably benign	0.00
R6750:Csmd2	UTSW	4	128197225	missense	possibly damaging	0.91
R6801:Csmd2	UTSW	4	128383950	missense	probably benign	0.11
R6842:Csmd2	UTSW	4	128509159	missense	possibly damaging	0.72
R6843:Csmd2	UTSW	4	128463794	missense	probably benign	0.27
R6868:Csmd2	UTSW	4	128442840	missense	probably benign
R6882:Csmd2	UTSW	4	128449269	missense	probably benign	0.01
R7019:Csmd2	UTSW	4	128369063	missense
R7028:Csmd2	UTSW	4	128277228	missense
R7096:Csmd2	UTSW	4	128462726	missense
R7122:Csmd2	UTSW	4	128449227	missense
R7125:Csmd2	UTSW	4	128496162	missense
R7197:Csmd2	UTSW	4	128511033	missense
R7234:Csmd2	UTSW	4	128456779	missense
R7299:Csmd2	UTSW	4	128528262	missense
R7301:Csmd2	UTSW	4	128528262	missense
R7319:Csmd2	UTSW	4	128393679	missense
R7331:Csmd2	UTSW	4	128564228	splice site	probably null
R7332:Csmd2	UTSW	4	128419567	missense
R7352:Csmd2	UTSW	4	128557636	missense
R7402:Csmd2	UTSW	4	128322095	missense
R7402:Csmd2	UTSW	4	128322096	missense
R7474:Csmd2	UTSW	4	128546127	missense
R7555:Csmd2	UTSW	4	128452458	missense
R7592:Csmd2	UTSW	4	128463798	missense
R7700:Csmd2	UTSW	4	128545756	splice site	probably null
R7714:Csmd2	UTSW	4	128382950	nonsense	probably null
R7734:Csmd2	UTSW	4	128552057	missense
R7735:Csmd2	UTSW	4	128456930	critical splice donor site	probably null
R7757:Csmd2	UTSW	4	128483456	missense
R7805:Csmd2	UTSW	4	128419573	missense
R7823:Csmd2	UTSW	4	128209905	missense
R7904:Csmd2	UTSW	4	128419553	missense
R7946:Csmd2	UTSW	4	128520265	missense
R7964:Csmd2	UTSW	4	128523510	missense
R7968:Csmd2	UTSW	4	128197325	missense
R8003:Csmd2	UTSW	4	128539187	nonsense	probably null
R8071:Csmd2	UTSW	4	128393538	missense
R8504:Csmd2	UTSW	4	128546690	missense
R8511:Csmd2	UTSW	4	128368899	missense
R8517:Csmd2	UTSW	4	128552686	missense
R8704:Csmd2	UTSW	4	128197354	missense
R8722:Csmd2	UTSW	4	128551950	unclassified	probably benign
R8729:Csmd2	UTSW	4	128462845	missense
R8801:Csmd2	UTSW	4	128563402	missense	probably damaging	0.97
R8803:Csmd2	UTSW	4	128546684	missense
R8839:Csmd2	UTSW	4	128442888	missense
R8867:Csmd2	UTSW	4	128557676	missense
R8913:Csmd2	UTSW	4	128523558	missense
R8928:Csmd2	UTSW	4	128475789	missense
R8974:Csmd2	UTSW	4	128552587	missense
R9001:Csmd2	UTSW	4	128414286	missense
R9132:Csmd2	UTSW	4	128549214	missense
R9245:Csmd2	UTSW	4	128306375	missense
R9249:Csmd2	UTSW	4	128419530	nonsense	probably null
R9254:Csmd2	UTSW	4	128197319	missense
R9265:Csmd2	UTSW	4	128400370	missense
R9407:Csmd2	UTSW	4	128548820	missense
R9432:Csmd2	UTSW	4	128277211	missense
R9559:Csmd2	UTSW	4	128544768	missense
R9673:Csmd2	UTSW	4	128414269	missense
R9735:Csmd2	UTSW	4	128509108	missense
R9749:Csmd2	UTSW	4	128496128	missense
R9803:Csmd2	UTSW	4	128369193	missense
Z1177:Csmd2	UTSW	4	128530797	missense

Predicted Primers

PCR Primer
(F):5'- TAGATGGCATGCATGGTATAGGC -3'
(R):5'- CTTAACCATGCGCACTCCTG -3'

Sequencing Primer
(F):5'- TATAGGCATGAACAGTGGACC -3'
(R):5'- ACTCCTGCTGGGATGCCAAC -3'

Posted On

2015-10-08