Mutagenetix > Incidental Mutation

Incidental Mutation 'R7402:Csmd2'

574249

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 #

R7402 (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 C at 128322095 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 548 (S548R)

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,706,075	P12Q	probably damaging	Het
Acsf3	A	G	8: 122,780,424	Y152C	probably damaging	Het
Adam22	T	A	5: 8,095,049	Q803L	possibly damaging	Het
Adamtsl3	G	A	7: 82,578,617	V1337I	probably damaging	Het
Adra1b	T	C	11: 43,776,018	D464G	possibly damaging	Het
Alpk3	T	A	7: 81,076,912	I115K	probably benign	Het
Amdhd2	A	G	17: 24,161,683	S96P		Het
Ankib1	T	G	5: 3,769,586	D111A	probably benign	Het
Arhgef2	A	G	3: 88,633,566	D216G	probably damaging	Het
Astn1	A	T	1: 158,552,855		probably benign	Het
Atrn	T	A	2: 130,947,600	W328R	probably damaging	Het
Atxn7	A	T	14: 14,095,427	H375L	probably damaging	Het
BC003331	A	G	1: 150,386,356		probably null	Het
Btaf1	A	T	19: 37,003,515	N1579Y	probably damaging	Het
Cacna1b	A	T	2: 24,607,659	L2079Q	probably benign	Het
Ccdc102a	T	C	8: 94,903,353	K520R	probably damaging	Het
Cd2ap	T	C	17: 42,805,163	H602R	possibly damaging	Het
Cdkn2aip	A	G	8: 47,711,373	V435A	possibly damaging	Het
Cenpf	A	T	1: 189,659,378	Y735*	probably null	Het
Cep350	T	A	1: 155,928,215	I1041L	probably benign	Het
Ckap4	A	G	10: 84,527,999	V400A	probably damaging	Het
Comp	T	A	8: 70,377,204	D359E	probably benign	Het
Coq10b	A	C	1: 55,061,341	K61N	probably benign	Het
Ctif	A	G	18: 75,611,736	I99T	probably benign	Het
Ctns	T	G	11: 73,193,077	T40P	possibly damaging	Het
Cyp11b1	C	T	15: 74,840,825	R129H	probably damaging	Het
Cyp2c68	A	T	19: 39,740,874	N56K	probably benign	Het
D6Wsu163e	A	G	6: 126,962,005	K401R	probably damaging	Het
Dstn	T	A	2: 143,938,448	C23S	probably benign	Het
Fam214a	C	A	9: 75,006,386	Y107*	probably null	Het
Fam72a	A	T	1: 131,538,875	E132D	probably damaging	Het
Fam72a	G	T	1: 131,538,876	E133*	probably null	Het
Gbp8	T	A	5: 105,031,295	I113F	probably damaging	Het
Gm3095	A	T	14: 3,964,463	R60S	possibly damaging	Het
Gpa33	A	T	1: 166,152,694	M109L	probably damaging	Het
Grik2	A	G	10: 49,535,397	L215P	probably damaging	Het
Gucy2g	A	C	19: 55,206,293	F897L	probably damaging	Het
Hinfp	A	G	9: 44,298,017	L295P	probably damaging	Het
Ift122	T	C	6: 115,894,322	V526A	probably benign	Het
Ighv5-12	T	C	12: 113,702,233	T82A	probably benign	Het
Il18rap	T	A	1: 40,524,951	S76R	probably benign	Het
Itga6	A	T	2: 71,853,553	N1045I	probably benign	Het
Kctd21	A	T	7: 97,347,763	I148F	possibly damaging	Het
Kif28	T	A	1: 179,740,079	H42L	probably benign	Het
Kmt2c	A	C	5: 25,395,420	C326W	probably damaging	Het
Knl1	T	A	2: 119,095,226	L1912*	probably null	Het
Lrfn1	A	T	7: 28,459,522	I289F	probably damaging	Het
Lrriq1	T	C	10: 103,221,324	K205R	possibly damaging	Het
Mbd5	A	T	2: 49,257,554	N592I	probably damaging	Het
Mbl2	A	G	19: 30,239,402	N205D	possibly damaging	Het
Mcm4	C	A	16: 15,637,178	M1I	probably null	Het
Mgat4a	T	A	1: 37,454,784	H327L	probably damaging	Het
Miox	A	G	15: 89,335,003	D16G	probably benign	Het
Mvk	C	A	5: 114,455,978	P298Q	possibly damaging	Het
Nol6	A	G	4: 41,118,699	L726P	probably damaging	Het
Nos1	T	C	5: 117,949,815	I1381T	probably benign	Het
Nup98	A	T	7: 102,134,937	S1063T	probably benign	Het
Obscn	T	G	11: 58,995,449	M7862L	unknown	Het
Obsl1	T	C	1: 75,487,704	T1653A	probably benign	Het
Olfr1044	A	G	2: 86,171,202	I205T	probably benign	Het
Olfr1202	G	T	2: 88,817,343	M57I	probably damaging	Het
Olfr1497	C	T	19: 13,794,994	V206I	probably damaging	Het
Olfr968	T	A	9: 39,771,964	T279S	probably benign	Het
Pcdhb20	A	G	18: 37,504,952	Y177C	probably benign	Het
Pcdhb3	A	C	18: 37,301,604	I208L	probably benign	Het
Phlpp1	G	T	1: 106,389,690	G1214W	probably damaging	Het
Ppp4r3a	A	T	12: 101,058,794	S149T	possibly damaging	Het
Pxdn	T	C	12: 30,002,439	C872R	probably damaging	Het
Rarb	A	G	14: 16,548,419	C101R	probably damaging	Het
Rcor3	A	C	1: 192,127,983	V114G	probably benign	Het
Rnpepl1	A	G	1: 92,919,650	Q653R	probably benign	Het
Rpap2	T	A	5: 107,620,458	Y387*	probably null	Het
Rttn	C	T	18: 88,985,911	T343M	possibly damaging	Het
Samd11	T	C	4: 156,248,773	T333A	probably benign	Het
Six5	T	C	7: 19,095,043	L136P	probably damaging	Het
Slc12a5	T	A	2: 164,982,932	M419K	probably benign	Het
Slc22a21	T	C	11: 53,960,400	M179V	probably benign	Het
Slc35a4	A	G	18: 36,680,517	D6G	unknown	Het
Spdye4c	A	T	2: 128,592,341	M1L	probably benign	Het
Svep1	A	T	4: 58,069,699	C2696S	possibly damaging	Het
Tceanc2	T	C	4: 107,147,696	N85S	probably benign	Het
Teddm2	A	T	1: 153,850,597	L124Q	probably damaging	Het
Teddm2	G	C	1: 153,850,598	L124V	probably benign	Het
Tgfbr1	T	A	4: 47,405,623	W409R	probably damaging	Het
Tkt	A	G	14: 30,558,798	D62G	probably damaging	Het
Tnrc6b	T	A	15: 80,884,300	V1054D	probably damaging	Het
Trpm7	C	A	2: 126,799,206	L1564F	probably damaging	Het
Vmn1r43	A	T	6: 89,869,821	C228S	probably benign	Het
Vmn2r106	T	C	17: 20,267,621	R839G	probably damaging	Het
Vmn2r5	G	A	3: 64,495,755	T523I	probably benign	Het
Vwa3b	C	T	1: 37,114,597	Q507*	probably null	Het
Wrn	C	G	8: 33,248,966	W1278S	probably benign	Het
Zfp281	T	G	1: 136,625,452	L56R	probably damaging	Het
Zfp407	G	A	18: 84,561,536	T484I	probably benign	Het
Zfp451	T	C	1: 33,813,762	T24A	probably benign	Het
Zfp607b	T	A	7: 27,693,494	F16I	probably damaging	Het
Zfp638	T	A	6: 83,928,688	V41E	possibly 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	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'- GTGGCCTAGCTCCAGATTTAGAG -3'
(R):5'- CAATCCTCAAGACTGTCTGGC -3'

Sequencing Primer
(F):5'- GCTCCAGATTTAGAGCGTGATATTTC -3'
(R):5'- TGGCACAGTGGGGCATG -3'

Posted On

2019-09-13