Mutagenetix > Incidental Mutation

Incidental Mutation 'R4838:Csmd2'

371505

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R4838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128517749 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 2520 (H2520R)

Ref Sequence

ENSEMBL: ENSMUSP00000138958 (fasta)

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000184063
AA Change: H2520R

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	T	9: 22,424,377	D97V	probably damaging	Het
Abca15	T	C	7: 120,345,300	V386A	probably benign	Het
Adk	G	A	14: 21,369,086	A247T	probably damaging	Het
Ankrd27	T	A	7: 35,591,806	L9Q	possibly damaging	Het
Atad2	A	G	15: 58,103,283	L638P	probably damaging	Het
Atf7ip	T	A	6: 136,596,491	D1009E	probably benign	Het
Bend7	A	T	2: 4,744,322	K83N	probably damaging	Het
Bicc1	C	T	10: 70,945,316	D562N	possibly damaging	Het
Calcrl	T	A	2: 84,351,205	N200Y	probably damaging	Het
Ccdc125	C	A	13: 100,677,945	A11E	possibly damaging	Het
Cd5l	A	G	3: 87,365,951	T76A	probably benign	Het
Cdhr5	A	T	7: 141,273,731	I2N	probably damaging	Het
Cdk10	C	T	8: 123,230,614	A230V	probably damaging	Het
Cep128	T	C	12: 90,999,545		probably benign	Het
Cep131	T	C	11: 120,076,156	N186D	probably damaging	Het
Cog7	G	T	7: 121,971,381	P168Q	probably damaging	Het
Col28a1	T	A	6: 8,014,559	M949L	probably benign	Het
Coq8b	T	A	7: 27,250,591	M365K	probably damaging	Het
Cpa1	A	G	6: 30,639,516	E18G	possibly damaging	Het
Cyp2c69	T	C	19: 39,877,594	N185S	probably benign	Het
Dpm1	G	A	2: 168,210,536	T260I	probably damaging	Het
Dtx3	A	T	10: 127,191,307		probably null	Het
Eepd1	T	C	9: 25,589,460	V401A	possibly damaging	Het
Ehhadh	A	G	16: 21,763,202	S347P	possibly damaging	Het
Elp3	A	G	14: 65,547,864		probably null	Het
Enam	C	T	5: 88,493,108	Q210*	probably null	Het
Epha1	C	T	6: 42,363,816	R607H	probably benign	Het
Erich6	A	G	3: 58,636,830	I112T	probably benign	Het
F830045P16Rik	A	G	2: 129,460,550	V374A	possibly damaging	Het
Fam171a2	C	A	11: 102,438,685	R416L	possibly damaging	Het
Fam35a	A	G	14: 34,268,625	V108A	probably benign	Het
Fbn1	T	C	2: 125,372,399	N764S	probably benign	Het
Fip1l1	C	T	5: 74,591,939	T469I	probably damaging	Het
Flad1	G	A	3: 89,405,910	R342C	probably damaging	Het
Fzd3	A	G	14: 65,239,820	V95A	probably benign	Het
Garem1	T	C	18: 21,147,893	T469A	probably benign	Het
Gm13084	G	A	4: 143,810,805	Q319*	probably null	Het
Gm17093	A	G	14: 44,518,348	Y24C	unknown	Het
Gm4788	T	A	1: 139,733,443	D556V	probably damaging	Het
Gm7534	A	G	4: 134,193,099	V585A	probably benign	Het
Grap2	T	C	15: 80,638,561	V96A	possibly damaging	Het
Greb1	A	T	12: 16,684,360		probably null	Het
Grid2ip	A	T	5: 143,388,775	K913*	probably null	Het
Gzmk	T	C	13: 113,173,021	D126G	probably damaging	Het
Hibch	A	G	1: 52,885,178	I171V	possibly damaging	Het
Hipk2	G	T	6: 38,818,404	T310K	possibly damaging	Het
Hk3	T	C	13: 55,006,418	Y815C	probably damaging	Het
Hps5	A	T	7: 46,788,354	V99E	probably damaging	Het
Hspg2	A	G	4: 137,541,666	H2203R	possibly damaging	Het
Il12rb2	A	G	6: 67,309,137	V108A	probably damaging	Het
Il6st	C	T	13: 112,490,510	R279*	probably null	Het
Kdm2a	A	C	19: 4,325,026	S692R	probably benign	Het
Kif13a	T	C	13: 46,826,748	K176R	probably damaging	Het
Kif5b	T	C	18: 6,216,869	K485E	probably damaging	Het
Ktn1	C	T	14: 47,725,956	R1111*	probably null	Het
Lrrc23	A	T	6: 124,778,189	N128K	probably benign	Het
Mad1l1	G	A	5: 140,300,262	Q293*	probably null	Het
Man1b1	A	T	2: 25,345,475	I338F	possibly damaging	Het
March1	G	T	8: 66,468,363	V225L	probably damaging	Het
Mrpl3	A	G	9: 105,057,032	D118G	probably damaging	Het
Nomo1	A	T	7: 46,083,715	Q1209L	unknown	Het
Nrcam	A	G	12: 44,574,019	E949G	probably damaging	Het
Olfm5	T	G	7: 104,154,365	N297T	probably damaging	Het
Olfr573-ps1	T	A	7: 102,942,246	L110F	probably damaging	Het
Pcdh7	A	T	5: 57,720,804	N567I	probably damaging	Het
Pkn1	A	G	8: 83,677,966	L495P	probably damaging	Het
Pkp1	T	C	1: 135,882,588	S415G	probably damaging	Het
Pou2f1	T	A	1: 165,916,923	Q53L	probably null	Het
Prkce	A	G	17: 86,630,083	K648R	probably benign	Het
Ptprh	G	A	7: 4,573,430	T277I	possibly damaging	Het
Rpl31	C	T	1: 39,370,967	R83C	probably benign	Het
Rpusd3	G	A	6: 113,416,876	Q194*	probably null	Het
Sgsm1	T	A	5: 113,282,626	N298Y	probably damaging	Het
She	G	A	3: 89,851,639	G355D	probably benign	Het
Snx11	C	T	11: 96,774,458	E9K	possibly damaging	Het
Soat1	C	A	1: 156,432,937	A444S	probably benign	Het
Sox6	T	C	7: 115,486,662	Y690C	probably damaging	Het
Spata13	T	A	14: 60,733,179	F10I	probably benign	Het
St18	C	A	1: 6,802,905	T288K	probably benign	Het
Tifa	C	T	3: 127,796,586	S2F	probably damaging	Het
Tmem232	A	T	17: 65,430,888	S392R	probably benign	Het
Tmtc3	T	C	10: 100,466,220	N289S	probably damaging	Het
Tpo	A	G	12: 30,092,634	F697S	probably damaging	Het
Trp53	A	G	11: 69,587,630	T122A	probably damaging	Het
Trps1	A	C	15: 50,827,316	I10S	probably benign	Het
Tubgcp5	C	T	7: 55,794,185		probably benign	Het
Unc13c	T	G	9: 73,932,072	Y499S	possibly damaging	Het
Unc45a	C	A	7: 80,333,035	D381Y	probably damaging	Het
Upf1	G	C	8: 70,339,368	H402Q	probably benign	Het
Uroc1	A	T	6: 90,349,192	I510F	possibly damaging	Het
Usp15	A	G	10: 123,127,757	F589L	probably damaging	Het
Vmn2r76	T	C	7: 86,225,525	Y748C	probably damaging	Het
Wwp1	T	C	4: 19,662,143	N151D	probably benign	Het
Zbtb40	A	T	4: 137,001,216	S439T	probably benign	Het
Zbtb6	A	T	2: 37,428,716	L400*	probably null	Het
Zfp125	C	T	12: 20,899,960		noncoding transcript	Het
Zmynd8	A	C	2: 165,840,034	Y183*	probably null	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
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'- AGTGGTACATGAACACCCCTC -3'
(R):5'- CAGGGGTCAGTTTGCTTGACTC -3'

Sequencing Primer
(F):5'- TACATGAACACCCCTCCACCAAG -3'
(R):5'- TTTTGGAGCTGGACCCCACAC -3'

Posted On

2016-03-01