Mutagenetix > Incidental Mutation

Incidental Mutation 'R1709:Csmd2'

190297

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

039742-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R1709 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128496195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2241 (V2241A)

Ref Sequence

ENSEMBL: ENSMUSP00000138958 (fasta)

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148247

Predicted Effect

probably damaging
Transcript: ENSMUST00000184063
AA Change: V2241A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	C	T	5: 9,440,726	R579*	probably null	Het
Aacs	A	G	5: 125,489,878	K152E	probably benign	Het
Adgrd1	T	C	5: 129,179,228	V641A	possibly damaging	Het
Adgrv1	A	T	13: 81,593,060	V95E	probably damaging	Het
Agbl5	G	A	5: 30,906,241	C872Y	probably damaging	Het
Aldh1a7	G	T	19: 20,715,952	T201K	probably damaging	Het
Aox1	C	T	1: 58,077,474	A788V	probably benign	Het
Apob	T	C	12: 8,009,306	V2563A	probably damaging	Het
Atcay	G	A	10: 81,213,231	T179I	probably damaging	Het
Atf5	A	T	7: 44,813,283	L139Q	probably benign	Het
Atp13a3	T	C	16: 30,315,841	T1205A	probably benign	Het
Atr	C	T	9: 95,871,076	T656I	probably benign	Het
Bloc1s3	T	C	7: 19,507,528	E25G	possibly damaging	Het
Brap	T	C	5: 121,665,290		probably null	Het
C6	G	T	15: 4,790,970	A488S	probably benign	Het
Ccin	T	C	4: 43,984,133	F180S	probably damaging	Het
Cd207	T	C	6: 83,672,836	I256V	possibly damaging	Het
Cdc42bpa	G	T	1: 180,067,224	C323F	probably damaging	Het
Cfap57	T	C	4: 118,571,704	T1022A	probably benign	Het
Cmtr2	A	T	8: 110,221,949	Q297L	probably benign	Het
Coro7	A	T	16: 4,634,441		probably null	Het
Cpsf2	T	A	12: 101,999,542	Y589N	probably damaging	Het
Cpxm2	T	C	7: 132,059,834	Y408C	probably damaging	Het
Crocc	A	G	4: 141,026,099		probably null	Het
Cryzl1	A	C	16: 91,712,236	F59C	probably damaging	Het
Cxcl15	C	A	5: 90,801,416	H147N	unknown	Het
Dennd4a	A	G	9: 64,889,605	T860A	possibly damaging	Het
Dnah10	C	T	5: 124,760,091	P966L	probably damaging	Het
Dpp9	T	A	17: 56,194,431	M594L	probably benign	Het
Dspp	C	A	5: 104,175,724	N244K	probably damaging	Het
Efcab8	T	A	2: 153,814,370		probably null	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fbxw17	A	G	13: 50,431,657	M299V	probably benign	Het
Fbxw7	T	A	3: 84,976,352	I530N	probably damaging	Het
Gm13023	T	C	4: 143,793,546	V120A	possibly damaging	Het
Gp2	C	A	7: 119,451,585	D308Y	probably null	Het
Gpd2	G	A	2: 57,357,655	V537M	probably damaging	Het
Gpr18	T	A	14: 121,911,992	Y207F	probably damaging	Het
Grip1	A	T	10: 119,897,715	D20V	probably damaging	Het
Gzmf	A	C	14: 56,206,940	F59V	probably damaging	Het
Hist1h3a	T	A	13: 23,761,981	I125F	probably damaging	Het
Igfn1	T	C	1: 135,955,573	I2732V	probably benign	Het
Ipo8	A	T	6: 148,782,728	D855E	probably benign	Het
Klrk1	A	T	6: 129,614,719		probably null	Het
Megf11	A	G	9: 64,695,412	Y876C	probably damaging	Het
Mettl8	G	T	2: 70,982,151	Q12K	probably benign	Het
Mrgprf	T	C	7: 145,308,217	F172S	probably benign	Het
Mycbp2	G	A	14: 103,224,416	T1432I	probably damaging	Het
Nek11	A	C	9: 105,348,061	L84R	probably damaging	Het
Nlrp1b	T	C	11: 71,201,273	E9G	probably benign	Het
Nrxn1	T	C	17: 90,037,187	I433V	probably damaging	Het
Nup153	A	G	13: 46,693,974	C660R	probably damaging	Het
Olfr108	T	A	17: 37,446,200	Y226*	probably null	Het
Olfr1427	G	T	19: 12,098,881	P253T	probably damaging	Het
Olfr196	T	A	16: 59,167,901	M81L	probably benign	Het
Olfr447	T	C	6: 42,912,144	V207A	possibly damaging	Het
P2rx7	T	A	5: 122,670,465	N303K	possibly damaging	Het
Pank4	T	C	4: 154,970,047	L159P	probably damaging	Het
Pcdhb22	A	T	18: 37,518,500	H7L	probably benign	Het
Pdzd8	A	T	19: 59,301,339	I543N	probably benign	Het
Prrc2b	C	A	2: 32,194,461	R313S	probably damaging	Het
Rbm12b1	T	C	4: 12,145,827	C600R	probably benign	Het
Rem1	G	A	2: 152,634,535	V238M	probably damaging	Het
Rfx6	T	A	10: 51,678,402	M113K	possibly damaging	Het
Rlf	A	T	4: 121,149,823	D653E	probably benign	Het
Rnf130	A	G	11: 50,087,386	D258G	possibly damaging	Het
Robo2	A	G	16: 73,956,523	V822A	possibly damaging	Het
Rps6kc1	G	T	1: 190,800,336	Q490K	possibly damaging	Het
Scn9a	T	C	2: 66,483,506	Y1945C	probably damaging	Het
Setd2	T	A	9: 110,549,857	D913E	probably benign	Het
Sfr1	G	T	19: 47,735,003	E315D	possibly damaging	Het
Smarca5	G	A	8: 80,709,220	R763*	probably null	Het
Sugct	A	C	13: 17,672,566	I44S	probably damaging	Het
Syce1l	A	G	8: 113,654,030		probably null	Het
Tbc1d8b	A	G	X: 139,734,080	I654V	probably benign	Het
Tcf23	T	A	5: 30,973,508	Y163*	probably null	Het
Terf2ip	TG	T	8: 112,011,606		probably null	Het
Tmem158	T	C	9: 123,259,885	S221G	possibly damaging	Het
Tnrc6a	A	G	7: 123,169,982	T332A	probably benign	Het
Trappc4	T	C	9: 44,407,211	T31A	probably benign	Het
Trim27	T	C	13: 21,188,065		probably null	Het
Ttyh2	T	A	11: 114,708,475	L330Q	probably damaging	Het
Tubgcp3	A	T	8: 12,639,532	L578*	probably null	Het
Txndc11	C	A	16: 11,128,701	E83*	probably null	Het
Utp20	T	C	10: 88,749,297	K2635R	probably benign	Het
V1ra8	C	T	6: 90,203,322	T169I	probably damaging	Het
Vcl	G	A	14: 21,019,373	V706I	probably benign	Het
Vmn2r106	A	T	17: 20,279,111	D179E	probably benign	Het
Vmn2r80	T	C	10: 79,194,389	M683T	probably benign	Het
Xirp2	A	G	2: 67,509,871	I819V	probably benign	Het
Zfp735	T	C	11: 73,711,763	F511S	probably benign	Het
Zfp831	T	C	2: 174,645,890	V786A	probably benign	Het
Zfp992	T	A	4: 146,466,492	H223Q	probably benign	Het
Zfyve19	A	C	2: 119,210,819	Q72P	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
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
R9749:Csmd2	UTSW	4	128496128	missense
R9803:Csmd2	UTSW	4	128369193	missense
Z1177:Csmd2	UTSW	4	128530797	missense

Predicted Primers

PCR Primer
(F):5'- GTGGAGTAAGCACAGAAGCTCCTG -3'
(R):5'- AGCACTGGCTCAACACATGATGAC -3'

Sequencing Primer
(F):5'- CAATACTGAGAACTGAGGTTTTACGG -3'
(R):5'- GAGGAACTTTACATAATGTCACAGC -3'

Posted On

2014-05-14