Mutagenetix > Incidental Mutation

Incidental Mutation 'R9749:Csmd2'

732393

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: 0.137) question?

Stock #

R9749 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128496128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 2219 (I2219F)

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,189,695	I382F	possibly damaging	Het
9030624J02Rik	C	A	7: 118,752,884	D195E	probably benign	Het
Adamtsl3	A	G	7: 82,450,186	S183G	probably benign	Het
Adamtsl4	T	C	3: 95,684,147	H170R	probably benign	Het
Adcy2	T	C	13: 68,625,855	D1023G	probably damaging	Het
Agrn	C	A	4: 156,173,657	V1083F	probably benign	Het
Arhgap21	T	C	2: 20,849,215	T1789A	probably benign	Het
Atr	T	C	9: 95,937,650		probably null	Het
Bcl2l13	T	C	6: 120,865,672	S109P	possibly damaging	Het
Bik	A	T	15: 83,541,339	T14S	possibly damaging	Het
Car7	A	G	8: 104,548,422	D164G	probably damaging	Het
Cat	T	A	2: 103,455,100	K499M	probably benign	Het
Ccar2	T	A	14: 70,151,279	Q161L	probably benign	Het
Cd109	T	G	9: 78,684,884	V760G	probably damaging	Het
Cep350	A	T	1: 155,953,239	H246Q	probably benign	Het
Chst13	T	C	6: 90,318,269	D54G	probably damaging	Het
Col4a4	A	G	1: 82,485,632	S1046P	unknown	Het
Col6a5	T	C	9: 105,861,991	Q2581R	probably damaging	Het
Cux2	G	A	5: 121,869,717	S627L	possibly damaging	Het
Cyp2a22	A	T	7: 26,939,290	W24R	probably null	Het
Dhrs7c	A	T	11: 67,811,653	T156S	probably damaging	Het
Dnah9	A	G	11: 66,095,376	V1144A	probably damaging	Het
Folh1	T	C	7: 86,719,700	T740A	probably damaging	Het
Foxo4	G	A	X: 101,258,349	S209N	probably benign	Het
Gm10300	A	G	4: 132,074,718	T8A	unknown	Het
Gm11273	G	A	13: 21,501,345	A25V	probably benign	Het
Gns	T	A	10: 121,378,152	I244N	probably benign	Het
Gsdmd	A	G	15: 75,863,562	K52E	probably damaging	Het
H1f0	A	G	15: 79,029,017	D99G	probably benign	Het
Hapln4	T	C	8: 70,087,074	Y252H	probably damaging	Het
Hmcn1	A	C	1: 150,756,588	I866S	possibly damaging	Het
Hrnr	C	T	3: 93,324,077	R541C	unknown	Het
Ick	T	A	9: 78,153,717	V215E	probably damaging	Het
Igkv4-57-1	A	G	6: 69,544,424	I98T	probably damaging	Het
Itih3	T	A	14: 30,919,322	D253V	probably damaging	Het
Kansl1l	T	A	1: 66,721,811	E869D	probably damaging	Het
Kif13a	T	C	13: 46,760,751	Q502R	probably damaging	Het
Lama5	T	A	2: 180,183,640	Q2447L	probably benign	Het
Lcn6	A	T	2: 25,680,022	M1L	probably benign	Het
Lrrtm1	T	C	6: 77,243,872	V104A	probably damaging	Het
Maats1	A	G	16: 38,308,125	I496T	probably damaging	Het
Map3k13	T	C	16: 21,921,831	L636P	probably benign	Het
Melk	T	A	4: 44,307,067	H74Q	possibly damaging	Het
Mixl1	A	T	1: 180,694,746	M190K	probably benign	Het
Mttp	A	G	3: 138,125,228	S27P	probably damaging	Het
Myh6	T	C	14: 54,953,486	I911V	probably damaging	Het
Ncapd3	T	A	9: 27,045,577	I262N	probably benign	Het
Ncapg2	C	A	12: 116,447,748	S1051*	probably null	Het
Nckap1	G	A	2: 80,571,224	Q39*	probably null	Het
Nemp1	A	G	10: 127,688,329	D76G	probably benign	Het
Olfr1083-ps	T	C	2: 86,607,565	E2G	probably benign	Het
Olfr1145	A	C	2: 87,809,858	K13Q	probably benign	Het
Olfr1239	T	A	2: 89,418,318	I32F	possibly damaging	Het
Olfr166	A	T	16: 19,487,363	H175L	possibly damaging	Het
Olfr434	G	A	6: 43,217,324	W137*	probably null	Het
Osbpl5	C	A	7: 143,695,571	V578L	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Rabl3	A	G	16: 37,556,828	D49G	possibly damaging	Het
Rngtt	A	G	4: 33,368,618	I384V	possibly damaging	Het
Robo1	T	C	16: 72,308,369		probably benign	Het
Rtcb	C	A	10: 85,949,589	R125L	probably damaging	Het
Rtn4rl2	C	A	2: 84,872,610	R206L	probably damaging	Het
Sbk2	A	T	7: 4,957,334	I279N	probably benign	Het
Scaf1	A	G	7: 45,007,152	S768P	unknown	Het
Slc6a9	A	G	4: 117,864,001	H316R	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Tas2r136	G	T	6: 132,778,143	T7K	probably damaging	Het
Tbc1d9	T	A	8: 83,241,710		probably null	Het
Tekt2	C	T	4: 126,323,651	R207H	probably damaging	Het
Tmem40	T	C	6: 115,742,345	D53G	probably benign	Het
Tram1	A	T	1: 13,570,014	V272D	possibly damaging	Het
Trpc4	G	A	3: 54,194,881	D67N	probably damaging	Het
Ttc6	A	T	12: 57,654,773	T591S	probably benign	Het
Ube2g1	A	T	11: 72,679,373	E144V	probably benign	Het
Unc80	A	G	1: 66,505,020	D434G	probably damaging	Het
Vmn1r168	C	A	7: 23,540,812	N31K	probably damaging	Het
Vmn1r79	A	T	7: 12,176,523	T111S	probably damaging	Het
Vmn2r118	C	T	17: 55,608,415		probably null	Het
Yy1	A	G	12: 108,806,491	D231G	possibly damaging	Het
Zfp748	A	G	13: 67,542,454	V229A	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
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
R9432:Csmd2	UTSW	4	128277211	missense
R9559:Csmd2	UTSW	4	128544768	missense
R9673:Csmd2	UTSW	4	128414269	missense
R9735:Csmd2	UTSW	4	128509108	missense
R9803:Csmd2	UTSW	4	128369193	missense
Z1177:Csmd2	UTSW	4	128530797	missense

Predicted Primers

PCR Primer
(F):5'- ACTGAGAACTGAGGTTTTACGGG -3'
(R):5'- CCCTTCTTAGTCTGGACAGC -3'

Sequencing Primer
(F):5'- CTGAGGTTTTACGGGGAAGACATC -3'
(R):5'- TGCAGAGTAAGCCTGCATAAC -3'

Posted On

2022-11-14