Mutagenetix > Incidental Mutations

Incidental Mutation 'R9132:Csmd2'

693696

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: 0.219) question?

Stock #

R9132 (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 G at 128549214 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 3253 (T3253A)

Ref Sequence

ENSEMBL: ENSMUSP00000138958 (fasta)

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000221199

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,292,062	T1705A	possibly damaging	Het
AC133488.1	A	T	16: 18,621,325	V363E	probably benign	Het
Adamts16	A	G	13: 70,753,289	S890P	probably benign	Het
Amd1	A	G	10: 40,293,162		probably null	Het
Apcs	A	G	1: 172,894,494	I95T	probably damaging	Het
Arhgap18	A	G	10: 26,854,890	D188G	probably benign	Het
Arhgap42	C	T	9: 9,011,418	V456M	probably damaging	Het
Atp2a2	T	C	5: 122,461,570	Y586C	probably damaging	Het
BC055324	A	G	1: 163,986,945	I143T	probably damaging	Het
Cbr1	G	C	16: 93,609,906	G170A	probably benign	Het
Cfap53	T	A	18: 74,283,201	Y2N	probably damaging	Het
Clcn3	A	G	8: 60,929,102	I511T	probably damaging	Het
Col28a1	T	A	6: 8,014,993	D804V	probably damaging	Het
Cyp2c40	A	T	19: 39,773,873	D443E	probably damaging	Het
Cyp7b1	A	G	3: 18,097,312	C246R	probably benign	Het
Dmxl1	C	G	18: 49,939,572	N2744K	probably damaging	Het
Dpyd	T	A	3: 118,917,248	I435N	probably damaging	Het
Fat2	A	T	11: 55,298,610	L1194Q	possibly damaging	Het
Gabrg1	A	T	5: 70,782,279	I170N	possibly damaging	Het
Gm5416	G	A	16: 36,217,699	V69I	probably benign	Het
Gon4l	C	T	3: 88,908,177	P2016S	probably benign	Het
Hax1	T	C	3: 89,995,820	R251G	probably damaging	Het
Hbq1b	A	T	11: 32,287,228	K41*	probably null	Het
Ido2	G	A	8: 24,533,917	P302S	probably damaging	Het
Igf2bp2	G	A	16: 22,081,752	T213I	probably damaging	Het
Itga2	A	T	13: 114,877,762	L210*	probably null	Het
Kdm1b	G	A	13: 47,071,982	S547N	probably benign	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Lyz2	A	T	10: 117,280,657	C95*	probably null	Het
Mafa	A	T	15: 75,747,199	S242T	possibly damaging	Het
Mapk1	T	C	16: 17,038,436		probably null	Het
Mta1	T	A	12: 113,136,405	V645E	probably damaging	Het
Muc5ac	T	C	7: 141,809,792	I2280T	unknown	Het
Naa35	T	C	13: 59,624,527	I438T	possibly damaging	Het
Necab2	T	C	8: 119,462,564	Y158H	probably damaging	Het
Nphp3	T	A	9: 104,020,781	L523Q	probably damaging	Het
Ogdh	A	T	11: 6,340,488	I369F	probably benign	Het
Pglyrp4	C	T	3: 90,727,931	Q28*	probably null	Het
Pla2g4a	C	T	1: 149,871,479	V319I	probably benign	Het
Plk3	ACACTCAC	ACAC	4: 117,131,893		probably benign	Het
Prdm6	C	A	18: 53,464,947	A127D	unknown	Het
Prop1	T	G	11: 50,952,210	E50A		Het
Ripk1	A	G	13: 34,028,201	N498S	probably benign	Het
Rnf213	A	G	11: 119,483,916	N5069S		Het
Saa3	T	C	7: 46,712,697	D41G	probably damaging	Het
Setd2	T	C	9: 110,545,317		probably null	Het
Shbg	G	A	11: 69,615,604	L327F	probably benign	Het
Slc1a4	C	T	11: 20,308,527	G304D	probably damaging	Het
Slf1	T	C	13: 77,100,954	K372E	probably benign	Het
Smad2	T	A	18: 76,262,502	I4N	possibly damaging	Het
Smad6	A	C	9: 64,007,588	S300A	probably benign	Het
Syde1	T	C	10: 78,589,506	S224G	probably benign	Het
Tacc1	A	T	8: 25,182,135	V359E	possibly damaging	Het
Tex15	T	G	8: 33,577,526	V2328G	possibly damaging	Het
Tmem43	A	C	6: 91,482,309	D254A	probably benign	Het
Trav6d-3	T	A	14: 52,726,753	Y58N	possibly damaging	Het
Trrap	A	G	5: 144,789,552	E437G	probably benign	Het
Wars	A	G	12: 108,861,273	F474L	probably benign	Het
Wdr78	A	G	4: 103,059,733	M592T	probably damaging	Het
Zfp169	T	C	13: 48,491,081	E190G	unknown	Het
Zfp541	T	A	7: 16,083,041	V918D	probably benign	Het
Zfp747	T	C	7: 127,375,750	D26G	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
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	not run
R9432:Csmd2	UTSW	4	128277211	missense	not run
Z1177:Csmd2	UTSW	4	128530797	missense

Predicted Primers

PCR Primer
(F):5'- CTTCTTGGGACAGAGTGTAGGAC -3'
(R):5'- TCCATTTCTGAAGGATGCTCCG -3'

Sequencing Primer
(F):5'- TGAGAGCTAATTAACTAGGGAATGC -3'
(R):5'- CGTGGGTCCGAGATCTTCTC -3'

Posted On

2022-01-20