Mutagenetix > Incidental Mutation

Incidental Mutation 'R8803:Csmd2'

671608

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

068640-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R8803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128546684 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 3181 (S3181T)

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,545,256	S431T	probably benign	Het
Acot7	T	G	4: 152,217,815	V128G	probably damaging	Het
Actn3	T	C	19: 4,864,663	D508G	probably benign	Het
Adam18	T	C	8: 24,647,862	I321V	probably benign	Het
Ak1	T	C	2: 32,633,478	V186A	probably benign	Het
Aldh3a2	A	G	11: 61,248,930	F459L	probably benign	Het
Atp11a	T	C	8: 12,825,721	L256P	probably benign	Het
Bcan	T	C	3: 87,996,692	E162G	probably benign	Het
Birc6	A	G	17: 74,652,038	Q3850R	probably damaging	Het
Btf3l4	T	G	4: 108,831,887		probably benign	Het
Btla	A	G	16: 45,239,067	T45A	probably benign	Het
Cad	T	G	5: 31,069,564	S1222A	probably damaging	Het
Cbarp	A	G	10: 80,137,142	V39A	possibly damaging	Het
Cct2	A	C	10: 117,058,185	D221E	probably benign	Het
Cmya5	T	C	13: 93,041,483	D3621G	probably damaging	Het
Col20a1	G	T	2: 181,001,338	R867L	possibly damaging	Het
Cops3	A	G	11: 59,827,976	V164A	probably benign	Het
Crygf	A	G	1: 65,927,989	R91G	probably damaging	Het
Cyb5r1	G	T	1: 134,405,958		probably benign	Het
Dennd6b	T	A	15: 89,186,180	I429F	probably benign	Het
Dock1	A	G	7: 134,874,087	T864A	probably benign	Het
Eea1	A	T	10: 96,023,991	D713V	probably benign	Het
Fam78b	G	A	1: 167,001,591	C9Y	probably damaging	Het
Gga2	A	C	7: 121,997,779	D371E	probably benign	Het
Gtpbp6	A	T	5: 110,107,320	V2E	unknown	Het
Hectd4	A	T	5: 121,323,931	M954L	probably benign	Het
Hmcn1	A	G	1: 150,734,497	C1474R	probably damaging	Het
Igkv1-99	G	T	6: 68,542,386	G109V		Het
Izumo3	T	C	4: 92,145,073		probably null	Het
Kremen1	T	C	11: 5,194,981	D465G	probably benign	Het
Ksr1	T	C	11: 79,146,056	E75G	probably benign	Het
Mmp17	G	T	5: 129,598,709	E311*	probably null	Het
Mmrn1	T	A	6: 60,988,287	F1101I	probably damaging	Het
Muc13	G	A	16: 33,812,917		probably benign	Het
Myl4	T	A	11: 104,584,577	M147K	probably damaging	Het
Myo1a	T	A	10: 127,710,987	N334K	probably benign	Het
Myo3b	T	C	2: 70,252,994	S664P	probably benign	Het
Nptxr	T	C	15: 79,794,454	N211D	probably damaging	Het
Ntf5	A	G	7: 45,416,061	T206A	probably benign	Het
Obscn	T	A	11: 59,054,403	E4596D	probably benign	Het
Olfr1316	T	C	2: 112,130,082	H243R	probably damaging	Het
Olfr1426	T	C	19: 12,088,105	E229G	probably benign	Het
Olfr1469	A	T	19: 13,410,673	I35F	probably damaging	Het
Olfr860	A	T	9: 19,846,166	I151N	possibly damaging	Het
Olfr988	T	A	2: 85,353,734	Q64L	probably damaging	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Paip2	A	G	18: 35,616,220	N114D	possibly damaging	Het
Pcnx	T	C	12: 81,993,151	S2071P	possibly damaging	Het
Pcsk2	A	G	2: 143,795,950	T369A	probably damaging	Het
Ppp1r12b	A	C	1: 134,890,754		probably benign	Het
Ppp1r35	T	A	5: 137,779,469	D132E	possibly damaging	Het
Pramel7	A	T	2: 87,490,061	V296E	probably benign	Het
Prh1	C	T	6: 132,571,985	P152S	unknown	Het
Pygl	T	C	12: 70,195,616	T689A	probably damaging	Het
Rasgef1b	T	C	5: 99,221,410	S450G	probably benign	Het
Rtn4ip1	G	T	10: 43,907,846	R121L	probably damaging	Het
Scarf2	A	T	16: 17,802,831	H121L	probably damaging	Het
Selenbp1	C	A	3: 94,944,510	A454E	possibly damaging	Het
Slc7a9	A	G	7: 35,463,718	I449M	possibly damaging	Het
Snapc2	C	T	8: 4,255,558	H278Y	probably damaging	Het
Stambp	C	T	6: 83,547,230		probably null	Het
Syne1	T	C	10: 5,361,535	Y550C	probably damaging	Het
Tas2r113	T	C	6: 132,893,141	V44A	possibly damaging	Het
Trpv4	T	C	5: 114,634,755	T305A	probably benign	Het
Twf1	T	C	15: 94,581,255	Y241C	probably damaging	Het
Ugt2a3	T	C	5: 87,336,530	K212E	probably damaging	Het
Ush2a	A	T	1: 188,944,801	H4770L	probably benign	Het
Zfc3h1	T	C	10: 115,411,895	V1001A	probably benign	Het
Zfp335	C	T	2: 164,909,370	R92Q	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
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'- TAGTAACGGGGCTTGTTTCCTC -3'
(R):5'- CTCATGGCGTCTTGAGAAATAGC -3'

Sequencing Primer
(F):5'- TCAGGGCAGCCTCAGAACTC -3'
(R):5'- CGTCTTGAGAAATAGCTCTGCTTCAG -3'

Posted On

2021-04-30