Mutagenetix > Incidental Mutation

Incidental Mutation 'R7197:Csmd2'

559999

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R7197 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128511033 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 2404 (Y2404C)

Ref Sequence

ENSEMBL: ENSMUSP00000138958 (fasta)

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

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	AGCTTCCCTGCTT	AGCTT	9: 57,258,222		probably null	Het
Aars2	T	C	17: 45,508,959	Y221H	probably damaging	Het
Abca8b	G	A	11: 109,945,822	R1216*	probably null	Het
Acad8	A	T	9: 26,977,671		probably null	Het
Acer2	A	G	4: 86,887,050	T84A	probably null	Het
Adgrb2	A	G	4: 130,009,522	N613S	probably damaging	Het
Arap2	T	C	5: 62,641,386	D1300G	possibly damaging	Het
Ccl11	A	T	11: 82,057,839		probably benign	Het
Cfh	A	T	1: 140,088,767	Y1151*	probably null	Het
Cobll1	A	G	2: 65,098,538	S815P	probably benign	Het
Cryz	T	C	3: 154,621,568	S240P	probably damaging	Het
F13a1	T	C	13: 36,916,886	D428G	probably damaging	Het
Fbxo42	A	G	4: 141,200,085	S559G	probably benign	Het
Fry	A	G	5: 150,469,767	S263G		Het
Fshr	C	T	17: 88,985,469	A594T	probably damaging	Het
Gatsl3	T	C	11: 4,218,949	C39R	probably damaging	Het
Gm1527	A	G	3: 28,926,541	M597V	probably null	Het
Gpr158	A	T	2: 21,810,601	T602S	probably damaging	Het
Hmgxb4	C	A	8: 75,029,996	T583K	probably damaging	Het
Igkv8-30	C	T	6: 70,117,085	C114Y	probably damaging	Het
Igsf5	T	A	16: 96,403,346	N366K	probably damaging	Het
Kif15	T	C	9: 123,009,926		probably null	Het
Klk1b26	T	A	7: 44,016,397		probably null	Het
Lama1	G	T	17: 67,737,705	E200*	probably null	Het
Lpar5	C	T	6: 125,082,384	T356I	probably benign	Het
Lrch3	A	T	16: 32,990,295	T538S	probably damaging	Het
Mansc4	A	G	6: 147,075,705	S138P	probably damaging	Het
Mief1	T	C	15: 80,249,860	S373P	possibly damaging	Het
Nbas	G	T	12: 13,520,750	V2053F	possibly damaging	Het
Nek11	T	C	9: 105,244,415	E435G	probably damaging	Het
Nynrin	A	T	14: 55,871,923	I1496F	probably benign	Het
Odf1	A	T	15: 38,219,550	M41L	probably benign	Het
Olfr1209	A	T	2: 88,910,364	F10I	probably benign	Het
Olfr1220	A	G	2: 89,097,282	V215A	probably benign	Het
Olfr713	A	G	7: 107,036,157	M8V	probably benign	Het
Olfr871	T	G	9: 20,212,555	S69A	probably benign	Het
Oxnad1	T	C	14: 32,096,516	V106A	possibly damaging	Het
Padi4	C	A	4: 140,761,658	E157*	probably null	Het
Parp10	A	T	15: 76,242,416	F217L	probably damaging	Het
Pcdhb18	T	A	18: 37,490,383	S255R	probably benign	Het
Pde4c	G	T	8: 70,745,329	G102W	probably damaging	Het
Pde6a	T	C	18: 61,258,224	Y547H	probably damaging	Het
Phf11b	A	T	14: 59,326,058	L137I	probably benign	Het
Pigh	A	C	12: 79,083,689	I134S	probably damaging	Het
Pigt	G	A	2: 164,502,516	V362M	probably damaging	Het
Pld1	A	G	3: 28,024,252	D20G	probably damaging	Het
Pou3f2	T	C	4: 22,487,288	R282G	probably damaging	Het
Ppp2r5d	A	G	17: 46,685,601	V382A	probably damaging	Het
Prdm16	T	C	4: 154,341,510	E606G	probably damaging	Het
Psg28	A	G	7: 18,430,584	Y68H	probably damaging	Het
Qpctl	C	A	7: 19,149,019	W56L	probably damaging	Het
Rab11fip5	G	A	6: 85,342,155	P584L	probably damaging	Het
Sde2	C	T	1: 180,851,278	H36Y	probably benign	Het
Sema4d	T	C	13: 51,702,836	S787G	probably benign	Het
Sgca	C	T	11: 94,973,188		probably null	Het
Shroom3	A	G	5: 92,942,604	E1071G	probably damaging	Het
Skint5	A	G	4: 113,580,482		probably null	Het
Slc44a3	T	A	3: 121,525,762	D110V	probably benign	Het
Slc4a4	A	C	5: 88,934,574		probably benign	Het
Slc4a8	A	G	15: 100,790,976	D389G	probably damaging	Het
Sp3	C	G	2: 72,979,609	E11Q	probably benign	Het
Srrm2	A	G	17: 23,818,224	S1281G	unknown	Het
Tat	A	T	8: 109,996,827	I316F	probably benign	Het
Thoc5	A	G	11: 4,915,563	T381A	probably benign	Het
Tiam1	T	C	16: 89,884,938	Y384C	probably damaging	Het
Tmem45a	A	T	16: 56,811,663	F197L	probably damaging	Het
Trav8d-1	A	G	14: 52,778,978	Y107C	probably damaging	Het
Trim10	T	A	17: 36,876,954	V354D	probably damaging	Het
Unc45b	A	T	11: 82,940,187		probably null	Het
Unc79	A	G	12: 103,112,506	I1643M	probably benign	Het
Unc80	G	T	1: 66,521,566	G818*	probably null	Het
Usp15	A	T	10: 123,131,005	M470K	possibly damaging	Het
Vldlr	T	C	19: 27,234,841	V85A	probably benign	Het
Vma21-ps	A	G	4: 52,496,994	V84A	probably benign	Het
Vmn2r67	C	T	7: 85,136,566	V744I	possibly damaging	Het
Wdr73	A	G	7: 80,893,198	C221R	probably benign	Het
Zxdc	C	T	6: 90,378,837	H443Y	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
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'- GGACAAGCTAATATCTCAGCCCTC -3'
(R):5'- TCATCAATTCCTGGGCCTTGG -3'

Sequencing Primer
(F):5'- CCACACCGTGTACATAGTGTC -3'
(R):5'- TTTCTACGGTAGAGGTAGACATTATG -3'

Posted On

2019-06-26