Mutagenetix > Incidental Mutation

Incidental Mutation 'R0157:Csmd2'

22902

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

038437-MU

Accession Numbers

Essential gene?

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

Stock #

R0157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127987857-128567656 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 128521911 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 2678 (V2678F)

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: ENSMUST00000152206
AA Change: V114F

Predicted Effect

probably benign
Transcript: ENSMUST00000184063
AA Change: V2678F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

Meta Mutation Damage Score

0.1809

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.5%

Validation Efficiency

64% (47/73)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	T	A	11: 80,165,701 (GRCm38)	I180N	probably damaging	Het
Alk	T	A	17: 71,949,845 (GRCm38)	N673I	probably benign	Het
Ankrd7	T	C	6: 18,866,540 (GRCm38)	S20P	probably damaging	Het
Arhgef26	T	G	3: 62,380,971 (GRCm38)	D487E	probably damaging	Het
Arhgef4	A	G	1: 34,806,394 (GRCm38)	D1500G	probably damaging	Het
Arhgef7	A	G	8: 11,785,812 (GRCm38)	I39V	probably damaging	Het
Asap2	T	A	12: 21,206,325 (GRCm38)	I208N	probably damaging	Het
Atad5	T	C	11: 80,089,817 (GRCm38)	V16A	possibly damaging	Het
Atp2b1	T	C	10: 98,999,947 (GRCm38)	I518T	probably damaging	Het
B130006D01Rik	T	C	11: 95,726,385 (GRCm38)		probably benign	Het
BC028528	A	G	3: 95,884,968 (GRCm38)		probably null	Het
Bpifb6	T	A	2: 153,903,966 (GRCm38)	L74Q	probably benign	Het
Bptf	T	C	11: 107,074,658 (GRCm38)	T1122A	possibly damaging	Het
Cacna2d4	T	A	6: 119,312,424 (GRCm38)	D806E	probably benign	Het
Cdhr3	T	C	12: 33,061,650 (GRCm38)	Q287R	possibly damaging	Het
Cdk12	A	G	11: 98,249,776 (GRCm38)		probably benign	Het
Cenpf	T	A	1: 189,652,359 (GRCm38)	T2575S	probably benign	Het
Chd7	T	A	4: 8,833,759 (GRCm38)	I1171N	probably damaging	Het
Chd9	T	C	8: 91,008,836 (GRCm38)		probably null	Het
Ckmt1	A	G	2: 121,363,041 (GRCm38)	T361A	possibly damaging	Het
Clec4d	G	T	6: 123,267,136 (GRCm38)	R68L	probably benign	Het
Cul7	T	A	17: 46,653,835 (GRCm38)	V131E	possibly damaging	Het
Dab2	T	C	15: 6,429,827 (GRCm38)	S407P	probably benign	Het
Dnah17	C	T	11: 118,127,171 (GRCm38)	G166D	probably benign	Het
F13b	G	A	1: 139,503,847 (GRCm38)	V52I	probably benign	Het
Fam208b	C	A	13: 3,575,550 (GRCm38)	V1467L	probably benign	Het
Gjd4	T	C	18: 9,280,549 (GRCm38)	I176M	probably benign	Het
Gm13083	C	T	4: 143,615,796 (GRCm38)	P158S	probably damaging	Het
Gm4969	T	C	7: 19,107,020 (GRCm38)	H63R	possibly damaging	Het
Hoxc11	A	G	15: 102,955,001 (GRCm38)	Y159C	probably damaging	Het
Hydin	T	C	8: 110,300,010 (GRCm38)	I120T	possibly damaging	Het
Il20rb	A	G	9: 100,473,079 (GRCm38)	Y104H	probably damaging	Het
Krtap21-1	A	G	16: 89,403,542 (GRCm38)	C71R	unknown	Het
Lamc1	T	C	1: 153,262,607 (GRCm38)	D167G	probably benign	Het
Lin7c	C	A	2: 109,895,169 (GRCm38)	A73E	probably damaging	Het
Mms22l	C	A	4: 24,588,224 (GRCm38)	A952E	probably damaging	Het
Myh3	A	G	11: 67,082,909 (GRCm38)	N136S	probably benign	Het
Ndufb10	T	C	17: 24,724,244 (GRCm38)	T31A	probably benign	Het
Nlrp2	T	C	7: 5,308,770 (GRCm38)	Y37C	possibly damaging	Het
Olfr1384	T	C	11: 49,513,773 (GRCm38)	I45T	probably damaging	Het
Olfr314	T	C	11: 58,787,059 (GRCm38)	F275S	probably damaging	Het
Orc3	C	A	4: 34,607,130 (GRCm38)		probably null	Het
Pard3b	A	C	1: 62,211,633 (GRCm38)	M512L	probably damaging	Het
Pcdh10	A	G	3: 45,379,701 (GRCm38)	D150G	probably damaging	Het
Pcolce	A	T	5: 137,610,479 (GRCm38)		probably null	Het
Pdcl	A	C	2: 37,352,177 (GRCm38)	I187S	probably damaging	Het
Pkn1	T	C	8: 83,692,820 (GRCm38)	I51M	probably damaging	Het
Pla2g4e	T	A	2: 120,170,181 (GRCm38)	T692S	probably benign	Het
Plcb2	C	A	2: 118,718,541 (GRCm38)	V380F	probably damaging	Het
Pmpcb	A	T	5: 21,742,952 (GRCm38)	I218F	probably damaging	Het
Pms1	A	T	1: 53,195,037 (GRCm38)	Y773*	probably null	Het
Polr2e	C	T	10: 80,036,781 (GRCm38)	G184R	probably damaging	Het
Polr3a	T	C	14: 24,479,186 (GRCm38)	I369V	probably damaging	Het
Prpf4b	T	C	13: 34,884,031 (GRCm38)		probably benign	Het
Pzp	G	A	6: 128,523,976 (GRCm38)	Q140*	probably null	Het
Qrich2	T	A	11: 116,441,395 (GRCm38)	E2325V	probably damaging	Het
R3hdm2	T	G	10: 127,471,989 (GRCm38)	L373R	probably damaging	Het
Sema3d	A	T	5: 12,508,137 (GRCm38)	D212V	possibly damaging	Het
Sidt2	A	G	9: 45,939,267 (GRCm38)	I850T	probably damaging	Het
Slc22a29	C	T	19: 8,162,742 (GRCm38)	R433H	possibly damaging	Het
Slitrk6	A	T	14: 110,749,932 (GRCm38)	L781H	probably damaging	Het
Sox21	G	A	14: 118,235,942 (GRCm38)		probably benign	Het
Steap3	A	G	1: 120,227,649 (GRCm38)	*527R	probably null	Het
Svep1	T	C	4: 58,069,830 (GRCm38)	E2652G	possibly damaging	Het
Taar2	T	A	10: 23,941,491 (GRCm38)	F310I	probably damaging	Het
Tecta	A	G	9: 42,375,011 (GRCm38)	V783A	probably benign	Het
Vmn1r173	T	A	7: 23,702,397 (GRCm38)	I19N	probably damaging	Het
Vwa5b1	T	A	4: 138,604,879 (GRCm38)	M276L	probably benign	Het
Yeats2	A	C	16: 20,221,677 (GRCm38)	*142C	probably null	Het
Zfp26	G	T	9: 20,437,870 (GRCm38)	T466K	probably benign	Het
Zfp426	T	C	9: 20,471,136 (GRCm38)	N171S	probably benign	Het

Other mutations in Csmd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Csmd2	APN	4	128,483,473 (GRCm38)	missense	probably benign	0.03
IGL01098:Csmd2	APN	4	128,059,052 (GRCm38)	missense	probably damaging	0.99
IGL01114:Csmd2	APN	4	128,369,130 (GRCm38)	missense	probably benign	0.04
IGL01364:Csmd2	APN	4	128,414,288 (GRCm38)	missense	probably benign	0.01
IGL01530:Csmd2	APN	4	128,414,301 (GRCm38)	missense	possibly damaging	0.66
IGL01582:Csmd2	APN	4	128,563,305 (GRCm38)	nonsense	probably null
IGL01670:Csmd2	APN	4	128,513,371 (GRCm38)	splice site	probably benign
IGL01707:Csmd2	APN	4	128,383,005 (GRCm38)	missense	possibly damaging	0.81
IGL01810:Csmd2	APN	4	128,480,845 (GRCm38)	splice site	probably benign
IGL01837:Csmd2	APN	4	128,419,570 (GRCm38)	missense	possibly damaging	0.92
IGL01924:Csmd2	APN	4	128,559,947 (GRCm38)	missense	unknown
IGL02013:Csmd2	APN	4	128,321,323 (GRCm38)	missense	possibly damaging	0.47
IGL02020:Csmd2	APN	4	128,559,879 (GRCm38)	missense	probably damaging	1.00
IGL02037:Csmd2	APN	4	128,477,470 (GRCm38)	splice site	probably benign
IGL02303:Csmd2	APN	4	128,369,008 (GRCm38)	missense	probably benign	0.01
IGL02317:Csmd2	APN	4	128,463,727 (GRCm38)	splice site	probably benign
IGL02322:Csmd2	APN	4	128,463,727 (GRCm38)	splice site	probably benign
IGL02338:Csmd2	APN	4	128,395,066 (GRCm38)	missense	possibly damaging	0.79
IGL02412:Csmd2	APN	4	128,513,372 (GRCm38)	splice site	probably benign
IGL02428:Csmd2	APN	4	128,474,816 (GRCm38)	missense	possibly damaging	0.82
IGL02491:Csmd2	APN	4	128,534,257 (GRCm38)	missense	probably benign
IGL02701:Csmd2	APN	4	128,496,141 (GRCm38)	missense	probably benign	0.17
IGL02801:Csmd2	APN	4	128,552,075 (GRCm38)	splice site	probably null
IGL02818:Csmd2	APN	4	128,209,728 (GRCm38)	missense	probably damaging	1.00
IGL02863:Csmd2	APN	4	128,521,884 (GRCm38)	missense	probably benign	0.00
IGL02876:Csmd2	APN	4	128,321,335 (GRCm38)	nonsense	probably null
IGL02977:Csmd2	APN	4	128,493,276 (GRCm38)	nonsense	probably null
IGL03006:Csmd2	APN	4	128,480,765 (GRCm38)	splice site	probably benign
IGL03032:Csmd2	APN	4	128,519,041 (GRCm38)	missense	probably benign	0.03
IGL03148:Csmd2	APN	4	128,384,269 (GRCm38)	missense	probably damaging	1.00
IGL03157:Csmd2	APN	4	128,414,299 (GRCm38)	nonsense	probably null
IGL03245:Csmd2	APN	4	128,509,122 (GRCm38)	missense	probably benign	0.12
IGL03376:Csmd2	APN	4	128,517,671 (GRCm38)	missense	probably benign	0.03
IGL03014:Csmd2	UTSW	4	128,296,429 (GRCm38)	missense	probably benign	0.01
R0109:Csmd2	UTSW	4	128,544,743 (GRCm38)	missense	probably benign	0.03
R0112:Csmd2	UTSW	4	128,496,029 (GRCm38)	missense	probably damaging	1.00
R0390:Csmd2	UTSW	4	128,133,673 (GRCm38)	intron	probably benign
R0441:Csmd2	UTSW	4	128,520,230 (GRCm38)	missense	probably benign	0.00
R0519:Csmd2	UTSW	4	128,487,005 (GRCm38)	missense	possibly damaging	0.95
R0743:Csmd2	UTSW	4	128,113,676 (GRCm38)	missense	probably benign	0.00
R0746:Csmd2	UTSW	4	128,414,297 (GRCm38)	missense	probably damaging	1.00
R0973:Csmd2	UTSW	4	128,496,188 (GRCm38)	missense	possibly damaging	0.91
R1019:Csmd2	UTSW	4	128,522,014 (GRCm38)	missense	probably benign	0.00
R1476:Csmd2	UTSW	4	128,487,001 (GRCm38)	missense	probably benign	0.08
R1641:Csmd2	UTSW	4	128,483,395 (GRCm38)	missense	possibly damaging	0.68
R1709:Csmd2	UTSW	4	128,496,195 (GRCm38)	missense	probably damaging	0.96
R2866:Csmd2	UTSW	4	128,414,392 (GRCm38)	critical splice donor site	probably null
R2870:Csmd2	UTSW	4	128,557,718 (GRCm38)	missense	unknown
R2870:Csmd2	UTSW	4	128,557,718 (GRCm38)	missense	unknown
R2871:Csmd2	UTSW	4	128,557,718 (GRCm38)	missense	unknown
R2871:Csmd2	UTSW	4	128,557,718 (GRCm38)	missense	unknown
R2872:Csmd2	UTSW	4	128,557,718 (GRCm38)	missense	unknown
R2872:Csmd2	UTSW	4	128,557,718 (GRCm38)	missense	unknown
R2873:Csmd2	UTSW	4	128,557,718 (GRCm38)	missense	unknown
R2893:Csmd2	UTSW	4	128,538,993 (GRCm38)	splice site	probably null
R3796:Csmd2	UTSW	4	128,517,595 (GRCm38)	missense	probably benign	0.20
R3797:Csmd2	UTSW	4	128,517,595 (GRCm38)	missense	probably benign	0.20
R3798:Csmd2	UTSW	4	128,517,595 (GRCm38)	missense	probably benign	0.20
R3914:Csmd2	UTSW	4	128,321,324 (GRCm38)	missense	probably benign	0.07
R4198:Csmd2	UTSW	4	128,510,924 (GRCm38)	missense	probably benign	0.07
R4489:Csmd2	UTSW	4	128,381,945 (GRCm38)	missense	possibly damaging	0.68
R4571:Csmd2	UTSW	4	128,480,095 (GRCm38)	splice site	probably null
R4581:Csmd2	UTSW	4	128,369,088 (GRCm38)	missense	probably benign	0.02
R4599:Csmd2	UTSW	4	127,988,128 (GRCm38)	missense	probably benign	0.35
R4649:Csmd2	UTSW	4	128,546,073 (GRCm38)	missense	probably benign
R4706:Csmd2	UTSW	4	128,544,751 (GRCm38)	missense	probably benign
R4776:Csmd2	UTSW	4	128,442,892 (GRCm38)	missense	probably benign	0.09
R4838:Csmd2	UTSW	4	128,517,749 (GRCm38)	missense	probably benign
R4900:Csmd2	UTSW	4	128,452,525 (GRCm38)	missense	probably benign	0.03
R4999:Csmd2	UTSW	4	128,521,930 (GRCm38)	missense	probably benign	0.00
R5024:Csmd2	UTSW	4	128,321,348 (GRCm38)	missense	possibly damaging	0.94
R5034:Csmd2	UTSW	4	128,059,108 (GRCm38)	missense	probably damaging	0.98
R5152:Csmd2	UTSW	4	128,552,035 (GRCm38)	missense	probably benign	0.27
R5172:Csmd2	UTSW	4	128,477,397 (GRCm38)	missense	probably benign	0.10
R5231:Csmd2	UTSW	4	128,546,049 (GRCm38)	missense	probably benign	0.00
R5279:Csmd2	UTSW	4	128,456,914 (GRCm38)	missense	probably benign	0.30
R5287:Csmd2	UTSW	4	128,486,884 (GRCm38)	missense	probably benign	0.01
R5403:Csmd2	UTSW	4	128,486,884 (GRCm38)	missense	probably benign	0.01
R5410:Csmd2	UTSW	4	128,548,819 (GRCm38)	missense	probably benign
R5551:Csmd2	UTSW	4	128,510,948 (GRCm38)	missense	possibly damaging	0.83
R5566:Csmd2	UTSW	4	128,462,889 (GRCm38)	critical splice donor site	probably null
R5826:Csmd2	UTSW	4	128,519,199 (GRCm38)	splice site	probably null
R5907:Csmd2	UTSW	4	128,197,385 (GRCm38)	missense	probably damaging	0.99
R5913:Csmd2	UTSW	4	128,551,988 (GRCm38)	missense	probably benign	0.01
R5970:Csmd2	UTSW	4	128,546,151 (GRCm38)	missense	probably benign	0.00
R5977:Csmd2	UTSW	4	128,059,034 (GRCm38)	missense	probably damaging	1.00
R6027:Csmd2	UTSW	4	128,559,946 (GRCm38)	missense	unknown
R6075:Csmd2	UTSW	4	128,486,865 (GRCm38)	missense	probably benign	0.15
R6129:Csmd2	UTSW	4	128,493,334 (GRCm38)	missense	possibly damaging	0.79
R6363:Csmd2	UTSW	4	128,400,379 (GRCm38)	missense	probably benign	0.00
R6366:Csmd2	UTSW	4	128,483,452 (GRCm38)	missense	probably benign	0.00
R6404:Csmd2	UTSW	4	128,521,950 (GRCm38)	missense	possibly damaging	0.90
R6437:Csmd2	UTSW	4	127,988,100 (GRCm38)	missense	probably benign	0.24
R6441:Csmd2	UTSW	4	128,394,964 (GRCm38)	missense	probably benign	0.03
R6643:Csmd2	UTSW	4	128,372,597 (GRCm38)	missense	probably benign	0.14
R6724:Csmd2	UTSW	4	128,563,371 (GRCm38)	missense	probably damaging	0.97
R6734:Csmd2	UTSW	4	128,463,813 (GRCm38)	missense	probably benign	0.00
R6750:Csmd2	UTSW	4	128,197,225 (GRCm38)	missense	possibly damaging	0.91
R6801:Csmd2	UTSW	4	128,383,950 (GRCm38)	missense	probably benign	0.11
R6842:Csmd2	UTSW	4	128,509,159 (GRCm38)	missense	possibly damaging	0.72
R6843:Csmd2	UTSW	4	128,463,794 (GRCm38)	missense	probably benign	0.27
R6868:Csmd2	UTSW	4	128,442,840 (GRCm38)	missense	probably benign
R6882:Csmd2	UTSW	4	128,449,269 (GRCm38)	missense	probably benign	0.01
R7019:Csmd2	UTSW	4	128,369,063 (GRCm38)	missense
R7028:Csmd2	UTSW	4	128,277,228 (GRCm38)	missense
R7096:Csmd2	UTSW	4	128,462,726 (GRCm38)	missense
R7122:Csmd2	UTSW	4	128,449,227 (GRCm38)	missense
R7125:Csmd2	UTSW	4	128,496,162 (GRCm38)	missense
R7197:Csmd2	UTSW	4	128,511,033 (GRCm38)	missense
R7234:Csmd2	UTSW	4	128,456,779 (GRCm38)	missense
R7299:Csmd2	UTSW	4	128,528,262 (GRCm38)	missense
R7301:Csmd2	UTSW	4	128,528,262 (GRCm38)	missense
R7319:Csmd2	UTSW	4	128,393,679 (GRCm38)	missense
R7331:Csmd2	UTSW	4	128,564,228 (GRCm38)	splice site	probably null
R7332:Csmd2	UTSW	4	128,419,567 (GRCm38)	missense
R7352:Csmd2	UTSW	4	128,557,636 (GRCm38)	missense
R7402:Csmd2	UTSW	4	128,322,096 (GRCm38)	missense
R7402:Csmd2	UTSW	4	128,322,095 (GRCm38)	missense
R7474:Csmd2	UTSW	4	128,546,127 (GRCm38)	missense
R7555:Csmd2	UTSW	4	128,452,458 (GRCm38)	missense
R7592:Csmd2	UTSW	4	128,463,798 (GRCm38)	missense
R7700:Csmd2	UTSW	4	128,545,756 (GRCm38)	splice site	probably null
R7714:Csmd2	UTSW	4	128,382,950 (GRCm38)	nonsense	probably null
R7734:Csmd2	UTSW	4	128,552,057 (GRCm38)	missense
R7735:Csmd2	UTSW	4	128,456,930 (GRCm38)	critical splice donor site	probably null
R7757:Csmd2	UTSW	4	128,483,456 (GRCm38)	missense
R7805:Csmd2	UTSW	4	128,419,573 (GRCm38)	missense
R7823:Csmd2	UTSW	4	128,209,905 (GRCm38)	missense
R7904:Csmd2	UTSW	4	128,419,553 (GRCm38)	missense
R7946:Csmd2	UTSW	4	128,520,265 (GRCm38)	missense
R7964:Csmd2	UTSW	4	128,523,510 (GRCm38)	missense
R7968:Csmd2	UTSW	4	128,197,325 (GRCm38)	missense
R8003:Csmd2	UTSW	4	128,539,187 (GRCm38)	nonsense	probably null
R8071:Csmd2	UTSW	4	128,393,538 (GRCm38)	missense
R8504:Csmd2	UTSW	4	128,546,690 (GRCm38)	missense
R8511:Csmd2	UTSW	4	128,368,899 (GRCm38)	missense
R8517:Csmd2	UTSW	4	128,552,686 (GRCm38)	missense
R8704:Csmd2	UTSW	4	128,197,354 (GRCm38)	missense
R8722:Csmd2	UTSW	4	128,551,950 (GRCm38)	unclassified	probably benign
R8729:Csmd2	UTSW	4	128,462,845 (GRCm38)	missense
R8801:Csmd2	UTSW	4	128,563,402 (GRCm38)	missense	probably damaging	0.97
R8803:Csmd2	UTSW	4	128,546,684 (GRCm38)	missense
R8839:Csmd2	UTSW	4	128,442,888 (GRCm38)	missense
R8867:Csmd2	UTSW	4	128,557,676 (GRCm38)	missense
R8913:Csmd2	UTSW	4	128,523,558 (GRCm38)	missense
R8928:Csmd2	UTSW	4	128,475,789 (GRCm38)	missense
R8974:Csmd2	UTSW	4	128,552,587 (GRCm38)	missense
R9001:Csmd2	UTSW	4	128,414,286 (GRCm38)	missense
R9132:Csmd2	UTSW	4	128,549,214 (GRCm38)	missense
R9245:Csmd2	UTSW	4	128,306,375 (GRCm38)	missense
R9249:Csmd2	UTSW	4	128,419,530 (GRCm38)	nonsense	probably null
R9254:Csmd2	UTSW	4	128,197,319 (GRCm38)	missense
R9265:Csmd2	UTSW	4	128,400,370 (GRCm38)	missense
R9407:Csmd2	UTSW	4	128,548,820 (GRCm38)	missense
R9432:Csmd2	UTSW	4	128,277,211 (GRCm38)	missense
R9559:Csmd2	UTSW	4	128,544,768 (GRCm38)	missense
R9673:Csmd2	UTSW	4	128,414,269 (GRCm38)	missense
R9735:Csmd2	UTSW	4	128,509,108 (GRCm38)	missense
R9749:Csmd2	UTSW	4	128,496,128 (GRCm38)	missense
R9803:Csmd2	UTSW	4	128,369,193 (GRCm38)	missense
Z1177:Csmd2	UTSW	4	128,530,797 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- GGGCAAGGCAGCATCATAGAACATC -3'
(R):5'- CCCTAAGGAAAGCGAATCTCTGGC -3'

Sequencing Primer
(F):5'- CATCACACTCCAGGAGAGGAAG -3'
(R):5'- CGAATCTCTGGCTCTAGTCATAATGG -3'

Posted On

2013-04-16