Mutagenetix > Incidental Mutation

Incidental Mutation 'R9432:Csmd2'

712997

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9432 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128277211 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 332 (H332Q)

Ref Sequence

ENSEMBL: ENSMUSP00000138958 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,737,051	R314G	unknown	Het
Abca13	G	A	11: 9,294,559	V2141M	probably benign	Het
Abcc10	G	A	17: 46,323,784	A431V	possibly damaging	Het
Acod1	A	G	14: 103,054,978	R313G	probably damaging	Het
Adam3	G	T	8: 24,703,912	S361R	probably damaging	Het
Ahcyl2	C	T	6: 29,768,875	T113M	possibly damaging	Het
Ano8	C	A	8: 71,480,917	R577L	unknown	Het
Arhgef7	T	A	8: 11,819,646	S653R	probably damaging	Het
Atp10a	G	A	7: 58,819,670	V1090I	possibly damaging	Het
Birc6	A	G	17: 74,659,221	M4048V	probably benign	Het
C3	G	A	17: 57,223,950	P384S	probably damaging	Het
Camkk1	A	T	11: 73,037,931	E432V	probably damaging	Het
Celsr3	T	A	9: 108,848,833	V3087D	probably benign	Het
Ckap4	A	G	10: 84,527,679	S507P	probably damaging	Het
Coq6	G	A	12: 84,373,690	M471I	probably benign	Het
Cxcr1	T	A	1: 74,192,072	N264Y	probably damaging	Het
Dchs2	C	A	3: 83,128,725	R260S	possibly damaging	Het
Elmod2	C	A	8: 83,331,132	A41S	possibly damaging	Het
Emilin2	G	A	17: 71,274,786	T315I	probably benign	Het
Eml1	A	G	12: 108,516,583	N487S	probably benign	Het
Epn1	G	T	7: 5,093,370	R221L	probably benign	Het
Faah	A	G	4: 116,017,575	V28A	probably benign	Het
Fbl	G	A	7: 28,177,264	R230H	probably benign	Het
Fsip2	C	T	2: 82,975,563	S742F	probably damaging	Het
Gm5460	A	G	14: 34,045,812	D184G	possibly damaging	Het
Gpatch2l	T	C	12: 86,260,634	V262A	probably damaging	Het
Grin2c	A	T	11: 115,251,226	L789*	probably null	Het
H1f0	C	T	15: 79,028,747	P9L	probably damaging	Het
Hectd4	A	G	5: 121,322,801	T948A	probably benign	Het
Herc2	G	A	7: 56,131,184	G1199D	probably damaging	Het
Hoxb7	G	T	11: 96,286,791	A22S	possibly damaging	Het
Ifih1	T	A	2: 62,609,274	I519F	probably damaging	Het
Ifit1bl1	T	A	19: 34,594,098	I320F	possibly damaging	Het
Iqgap2	T	C	13: 95,637,753	T1320A	probably benign	Het
Kat2a	A	G	11: 100,711,352	V192A	probably damaging	Het
Kat6b	A	C	14: 21,622,009	H329P	probably damaging	Het
Klhl29	A	G	12: 5,210,056	L54P	probably benign	Het
Kntc1	A	T	5: 123,787,049	I1142F	possibly damaging	Het
Lipo3	A	G	19: 33,556,464	Y323H	probably damaging	Het
Lmtk3	G	A	7: 45,792,570	V351I	probably damaging	Het
Lrrc8b	T	C	5: 105,486,022	S787P	probably benign	Het
Magi1	A	G	6: 93,683,077	I1179T	probably damaging	Het
Mapk11	T	C	15: 89,144,428	D269G	probably benign	Het
Mfsd13a	T	G	19: 46,366,429	I15R	probably benign	Het
Myo1h	G	A	5: 114,361,305	V143I	possibly damaging	Het
Naaladl1	T	C	19: 6,106,887	I187T	possibly damaging	Het
Nos1	G	A	5: 117,896,806	V416M	probably damaging	Het
Olfr1076	T	G	2: 86,508,570	I37S	probably benign	Het
Olfr294	G	A	7: 86,615,857	R263C	possibly damaging	Het
Olfr761	A	G	17: 37,952,668	S119P	probably damaging	Het
Pcdh15	A	G	10: 74,624,338	T1373A	probably damaging	Het
Pcdh18	T	G	3: 49,745,218	M932L	probably damaging	Het
Pcdhb15	T	A	18: 37,475,630	H638Q	probably benign	Het
Pcdhb19	A	G	18: 37,497,575	E141G	possibly damaging	Het
Pds5b	T	G	5: 150,769,791	L656R	probably damaging	Het
Plcl1	T	C	1: 55,406,428	L14P	probably benign	Het
Pzp	A	T	6: 128,522,165	I173N		Het
Rnf123	C	T	9: 108,059,809	R849H	probably damaging	Het
Sfrp5	T	C	19: 42,199,786	D198G	probably damaging	Het
Sftpb	G	C	6: 72,306,859	A147P	probably benign	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Slc30a6	A	G	17: 74,412,704	T220A	possibly damaging	Het
Slc5a3	T	A	16: 92,077,727	V224D	probably benign	Het
Smad5	T	A	13: 56,727,604	Y202N	probably benign	Het
Smok2b	A	G	17: 13,234,994	I14V	probably damaging	Het
Tas2r108	T	A	6: 40,494,187	I199K	probably damaging	Het
Tcea2	A	G	2: 181,680,434	I10V	probably damaging	Het
Tfg	G	A	16: 56,704,505	R113*	probably null	Het
Tubb4a	A	T	17: 57,081,034	L331I	probably benign	Het
Ugt2b37	A	G	5: 87,254,187	V195A	probably damaging	Het
Umad1	A	G	6: 8,401,096	H55R	unknown	Het
Vmn1r176	A	T	7: 23,835,318	Y137N	probably damaging	Het
Vmn1r44	T	A	6: 89,893,491	M73K	possibly damaging	Het
Vmn2r112	A	G	17: 22,602,252	T69A		Het
Vmn2r59	A	T	7: 42,046,830	Y163N	probably damaging	Het
Vps13c	T	A	9: 67,922,855	D1514E	probably benign	Het
Vsir	A	G	10: 60,357,953	D65G	possibly damaging	Het
Ypel3	A	T	7: 126,780,090	M112L	probably benign	Het
Zfp26	T	A	9: 20,436,534	K911N	probably damaging	Het
Zfp362	C	T	4: 128,777,187	R346Q	probably damaging	Het
Zfp595	A	T	13: 67,317,343	Y288*	probably null	Het
Zfyve28	G	T	5: 34,243,289	Q22K	possibly damaging	Het
Zswim4	T	G	8: 84,236,910	D32A	probably damaging	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
R4649:Csmd2	UTSW	4	128546073	missense	probably benign
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
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'- GGCCTCCTAGAGCATCAGATAG -3'
(R):5'- TGCCCCTCTGGTACCTAAAG -3'

Sequencing Primer
(F):5'- ATCAGATAGATGGTGCTCTCCTC -3'
(R):5'- CCTAGGCATGTGCAGAGATGC -3'

Posted On

2022-05-16