Mutagenetix > Incidental Mutation

Incidental Mutation 'R5977:Csmd2'

481174

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

044159-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R5977 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 128059034 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 92 (P92L)

Ref Sequence

ENSEMBL: ENSMUSP00000138958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000184063]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144298

Predicted Effect

probably damaging
Transcript: ENSMUST00000184063
AA Change: P92L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,615,244	R446S	probably damaging	Het
2900092C05Rik	A	T	7: 12,554,737	H159L	probably benign	Het
4933405O20Rik	G	A	7: 50,600,090	V291I	probably damaging	Het
A2ml1	A	G	6: 128,581,122	Y24H	probably damaging	Het
Adgrv1	C	T	13: 81,435,559		probably null	Het
Ankrd52	C	T	10: 128,382,697	H351Y	probably damaging	Het
Anks6	C	A	4: 47,035,748	A588S	probably benign	Het
Arl15	T	G	13: 113,934,109	V80G	probably damaging	Het
Atp8a1	A	G	5: 67,747,285	I532T	possibly damaging	Het
Birc6	T	C	17: 74,603,036	C1475R	probably damaging	Het
Carmil1	C	T	13: 24,069,736	R394Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,517,777	I254T	probably damaging	Het
Col6a3	A	G	1: 90,821,849	V421A	possibly damaging	Het
Cped1	T	C	6: 22,254,608	V1000A	probably damaging	Het
Cr1l	A	T	1: 195,114,768	Y282*	probably null	Het
Cryl1	G	T	14: 57,382,779	T43K	probably benign	Het
Ddx60	G	A	8: 62,021,410		probably null	Het
Dhrs7b	C	T	11: 60,852,502	R187*	probably null	Het
Dmtf1	T	C	5: 9,140,451	T88A	probably damaging	Het
Dnah2	T	C	11: 69,520,881	E305G	possibly damaging	Het
Dscaml1	A	C	9: 45,721,298	N1154T	probably benign	Het
Efhc1	A	G	1: 20,960,218	Y125C	probably damaging	Het
Egflam	T	A	15: 7,318,245	Y68F	possibly damaging	Het
Gcm2	A	G	13: 41,103,127	V382A	probably damaging	Het
Gm18358	A	G	7: 85,090,548		noncoding transcript	Het
Gm3443	T	G	19: 21,557,596	I75S	probably benign	Het
Gpr182	C	A	10: 127,750,879	V68F	possibly damaging	Het
Herc1	T	A	9: 66,433,322	M1651K	possibly damaging	Het
Hey1	A	T	3: 8,666,358		probably null	Het
Ighv1-43	A	C	12: 114,946,209	V31G	probably benign	Het
Il17rc	T	C	6: 113,482,731	V450A	probably damaging	Het
Kbtbd4	T	G	2: 90,906,143	V166G	probably benign	Het
Marveld2	T	C	13: 100,611,689	N294S	possibly damaging	Het
Mtdh	A	G	15: 34,099,574	K61E	probably damaging	Het
Muc5ac	T	C	7: 141,796,367	S616P	possibly damaging	Het
Myh15	T	C	16: 49,153,503	L1292P	probably damaging	Het
Nek8	C	T	11: 78,167,825	V550M	probably benign	Het
Nup155	T	A	15: 8,130,237		probably null	Het
Olfr1356	A	T	10: 78,847,738	M59K	possibly damaging	Het
Olfr1390	G	A	11: 49,340,765	V78M	probably damaging	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Papln	G	A	12: 83,784,369	W1099*	probably null	Het
Pcdhb17	A	G	18: 37,485,667	Y170C	probably damaging	Het
Pramef8	T	C	4: 143,417,659	Y192H	probably benign	Het
Prss39	T	G	1: 34,502,702	C287G	probably damaging	Het
Pyroxd2	A	G	19: 42,735,472	V338A	probably damaging	Het
Rab19	T	A	6: 39,383,926	F3I	probably benign	Het
Relt	A	G	7: 100,863,148		probably benign	Het
Sbf2	T	A	7: 110,377,986	H647L	probably benign	Het
Scube1	C	T	15: 83,629,488	C327Y	probably damaging	Het
Sec14l4	A	C	11: 4,040,055	Q118P	possibly damaging	Het
Shisa9	C	G	16: 12,267,428	D300E	probably benign	Het
Smg1	A	G	7: 118,141,357		probably benign	Het
Sncaip	A	G	18: 52,869,321	T305A	probably benign	Het
Sorcs3	T	C	19: 48,796,450	V1104A	probably damaging	Het
Tmem2	A	G	19: 21,826,083	T827A	probably benign	Het
Ugt1a6b	C	T	1: 88,216,260	R201C	probably damaging	Het
Unc119b	A	G	5: 115,130,553	V91A	probably benign	Het
Uvssa	A	G	5: 33,389,860	K257E	probably damaging	Het
Vmn1r199	A	C	13: 22,383,246	M237L	probably benign	Het
Vmn1r69	G	A	7: 10,580,490	R26W	probably damaging	Het
Vmn2r54	A	G	7: 12,632,216	F264L	probably damaging	Het
Vmn2r7	C	T	3: 64,716,043	W285*	probably null	Het
Vmn2r78	T	A	7: 86,920,333	S145T	possibly damaging	Het
Vmn2r78	T	A	7: 86,954,907	N764K	probably benign	Het
Wdr5b	T	G	16: 36,042,004	H164Q	probably damaging	Het
Zcchc7	G	A	4: 44,894,982	V236I	possibly damaging	Het
Zfp729b	G	A	13: 67,591,621	R842C	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
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'- GCTTCAATATAACTGGACACAATGC -3'
(R):5'- AGATTCCCTCTGTTCGCCAG -3'

Sequencing Primer
(F):5'- TCATAGGAAGCCCTCAGTCAAGTG -3'
(R):5'- ATTGGCTCAGGCACAGCAG -3'

Posted On

2017-06-26