Mutagenetix > Incidental Mutation

Incidental Mutation 'R5172:Csmd2'

398789

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

042752-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R5172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127881650-128461449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 128371190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 1926 (Q1926P)

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: ENSMUST00000148247

Predicted Effect

probably benign
Transcript: ENSMUST00000184063
AA Change: Q1926P

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,266,434 (GRCm39)	Y52C	probably damaging	Het
Acmsd	C	T	1: 127,681,585 (GRCm39)	R183*	probably null	Het
Anxa2	T	A	9: 69,392,533 (GRCm39)	D127E	probably damaging	Het
Atrnl1	T	A	19: 57,673,945 (GRCm39)	Y593*	probably null	Het
Atxn2	C	T	5: 121,933,098 (GRCm39)		probably null	Het
Ccl6	A	T	11: 83,480,169 (GRCm39)	Y66N	probably damaging	Het
Ccng1	A	G	11: 40,642,113 (GRCm39)	V223A	probably benign	Het
Cfap44	T	C	16: 44,269,556 (GRCm39)	Y1187H	probably benign	Het
Cfc1	A	T	1: 34,575,011 (GRCm39)	I10F	probably benign	Het
Chrne	T	A	11: 70,506,352 (GRCm39)	T365S	probably benign	Het
Clec4b1	G	T	6: 123,048,414 (GRCm39)	R183L	probably benign	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dzip1	T	A	14: 119,124,563 (GRCm39)	Q570L	probably damaging	Het
Fam149a	T	A	8: 45,797,690 (GRCm39)	Q507L	probably damaging	Het
Frem3	T	C	8: 81,339,195 (GRCm39)	V496A	probably benign	Het
Fryl	A	T	5: 73,259,016 (GRCm39)	D589E	possibly damaging	Het
Hemk1	T	C	9: 107,206,631 (GRCm39)	E4G	possibly damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcnh7	T	C	2: 62,569,508 (GRCm39)	D796G	possibly damaging	Het
Lemd2	G	T	17: 27,414,356 (GRCm39)	S326*	probably null	Het
Mdc1	T	C	17: 36,163,982 (GRCm39)	S1177P	probably benign	Het
Mfsd4b4	A	G	10: 39,770,083 (GRCm39)	F78S	probably damaging	Het
Mmgt2	T	A	11: 62,555,954 (GRCm39)	F101I	possibly damaging	Het
Myo18a	T	C	11: 77,714,924 (GRCm39)	L785P	probably damaging	Het
Nup155	C	A	15: 8,139,026 (GRCm39)	Q33K	probably benign	Het
Or52r1c	T	C	7: 102,734,884 (GRCm39)	L48P	probably damaging	Het
Or5w19	A	G	2: 87,699,171 (GRCm39)	T279A	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pank1	A	T	19: 34,818,202 (GRCm39)	C112*	probably null	Het
Pcmtd1	T	A	1: 7,233,485 (GRCm39)	M23K	probably benign	Het
Rere	A	T	4: 150,654,726 (GRCm39)	R419S	unknown	Het
Rpf1	T	C	3: 146,218,050 (GRCm39)	R155G	possibly damaging	Het
Sema7a	A	G	9: 57,864,961 (GRCm39)	T421A	probably benign	Het
Sharpin	A	G	15: 76,231,741 (GRCm39)	S323P	probably benign	Het
Slamf6	A	G	1: 171,764,147 (GRCm39)	E180G	probably benign	Het
Snd1	T	G	6: 28,886,615 (GRCm39)	V874G	possibly damaging	Het
Sult6b2	A	T	6: 142,743,657 (GRCm39)	V123D	probably damaging	Het
Tpk1	A	T	6: 43,536,951 (GRCm39)		probably null	Het
Vmn1r160	A	T	7: 22,570,761 (GRCm39)	N38I	probably damaging	Het
Wdr93	T	A	7: 79,402,241 (GRCm39)	I180N	probably damaging	Het
Ythdf3	C	T	3: 16,258,198 (GRCm39)	T119I	probably damaging	Het
Zc3h18	T	G	8: 123,134,159 (GRCm39)		probably benign	Het

Other mutations in Csmd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Csmd2	APN	4	128,377,266 (GRCm39)	missense	probably benign	0.03
IGL01098:Csmd2	APN	4	127,952,845 (GRCm39)	missense	probably damaging	0.99
IGL01114:Csmd2	APN	4	128,262,923 (GRCm39)	missense	probably benign	0.04
IGL01364:Csmd2	APN	4	128,308,081 (GRCm39)	missense	probably benign	0.01
IGL01530:Csmd2	APN	4	128,308,094 (GRCm39)	missense	possibly damaging	0.66
IGL01582:Csmd2	APN	4	128,457,098 (GRCm39)	nonsense	probably null
IGL01670:Csmd2	APN	4	128,407,164 (GRCm39)	splice site	probably benign
IGL01707:Csmd2	APN	4	128,276,798 (GRCm39)	missense	possibly damaging	0.81
IGL01810:Csmd2	APN	4	128,374,638 (GRCm39)	splice site	probably benign
IGL01837:Csmd2	APN	4	128,313,363 (GRCm39)	missense	possibly damaging	0.92
IGL01924:Csmd2	APN	4	128,453,740 (GRCm39)	missense	unknown
IGL02013:Csmd2	APN	4	128,215,116 (GRCm39)	missense	possibly damaging	0.47
IGL02020:Csmd2	APN	4	128,453,672 (GRCm39)	missense	probably damaging	1.00
IGL02037:Csmd2	APN	4	128,371,263 (GRCm39)	splice site	probably benign
IGL02303:Csmd2	APN	4	128,262,801 (GRCm39)	missense	probably benign	0.01
IGL02317:Csmd2	APN	4	128,357,520 (GRCm39)	splice site	probably benign
IGL02322:Csmd2	APN	4	128,357,520 (GRCm39)	splice site	probably benign
IGL02338:Csmd2	APN	4	128,288,859 (GRCm39)	missense	possibly damaging	0.79
IGL02412:Csmd2	APN	4	128,407,165 (GRCm39)	splice site	probably benign
IGL02428:Csmd2	APN	4	128,368,609 (GRCm39)	missense	possibly damaging	0.82
IGL02491:Csmd2	APN	4	128,428,050 (GRCm39)	missense	probably benign
IGL02701:Csmd2	APN	4	128,389,934 (GRCm39)	missense	probably benign	0.17
IGL02801:Csmd2	APN	4	128,445,868 (GRCm39)	splice site	probably null
IGL02818:Csmd2	APN	4	128,103,521 (GRCm39)	missense	probably damaging	1.00
IGL02863:Csmd2	APN	4	128,415,677 (GRCm39)	missense	probably benign	0.00
IGL02876:Csmd2	APN	4	128,215,128 (GRCm39)	nonsense	probably null
IGL02977:Csmd2	APN	4	128,387,069 (GRCm39)	nonsense	probably null
IGL03006:Csmd2	APN	4	128,374,558 (GRCm39)	splice site	probably benign
IGL03032:Csmd2	APN	4	128,412,834 (GRCm39)	missense	probably benign	0.03
IGL03148:Csmd2	APN	4	128,278,062 (GRCm39)	missense	probably damaging	1.00
IGL03157:Csmd2	APN	4	128,308,092 (GRCm39)	nonsense	probably null
IGL03245:Csmd2	APN	4	128,402,915 (GRCm39)	missense	probably benign	0.12
IGL03376:Csmd2	APN	4	128,411,464 (GRCm39)	missense	probably benign	0.03
IGL03014:Csmd2	UTSW	4	128,190,222 (GRCm39)	missense	probably benign	0.01
R0109:Csmd2	UTSW	4	128,438,536 (GRCm39)	missense	probably benign	0.03
R0112:Csmd2	UTSW	4	128,389,822 (GRCm39)	missense	probably damaging	1.00
R0157:Csmd2	UTSW	4	128,415,704 (GRCm39)	missense	probably benign	0.02
R0390:Csmd2	UTSW	4	128,027,466 (GRCm39)	intron	probably benign
R0441:Csmd2	UTSW	4	128,414,023 (GRCm39)	missense	probably benign	0.00
R0519:Csmd2	UTSW	4	128,380,798 (GRCm39)	missense	possibly damaging	0.95
R0743:Csmd2	UTSW	4	128,007,469 (GRCm39)	missense	probably benign	0.00
R0746:Csmd2	UTSW	4	128,308,090 (GRCm39)	missense	probably damaging	1.00
R0973:Csmd2	UTSW	4	128,389,981 (GRCm39)	missense	possibly damaging	0.91
R1019:Csmd2	UTSW	4	128,415,807 (GRCm39)	missense	probably benign	0.00
R1476:Csmd2	UTSW	4	128,380,794 (GRCm39)	missense	probably benign	0.08
R1641:Csmd2	UTSW	4	128,377,188 (GRCm39)	missense	possibly damaging	0.68
R1709:Csmd2	UTSW	4	128,389,988 (GRCm39)	missense	probably damaging	0.96
R2866:Csmd2	UTSW	4	128,308,185 (GRCm39)	critical splice donor site	probably null
R2870:Csmd2	UTSW	4	128,451,511 (GRCm39)	missense	unknown
R2870:Csmd2	UTSW	4	128,451,511 (GRCm39)	missense	unknown
R2871:Csmd2	UTSW	4	128,451,511 (GRCm39)	missense	unknown
R2871:Csmd2	UTSW	4	128,451,511 (GRCm39)	missense	unknown
R2872:Csmd2	UTSW	4	128,451,511 (GRCm39)	missense	unknown
R2872:Csmd2	UTSW	4	128,451,511 (GRCm39)	missense	unknown
R2873:Csmd2	UTSW	4	128,451,511 (GRCm39)	missense	unknown
R2893:Csmd2	UTSW	4	128,432,786 (GRCm39)	splice site	probably null
R3796:Csmd2	UTSW	4	128,411,388 (GRCm39)	missense	probably benign	0.20
R3797:Csmd2	UTSW	4	128,411,388 (GRCm39)	missense	probably benign	0.20
R3798:Csmd2	UTSW	4	128,411,388 (GRCm39)	missense	probably benign	0.20
R3914:Csmd2	UTSW	4	128,215,117 (GRCm39)	missense	probably benign	0.07
R4198:Csmd2	UTSW	4	128,404,717 (GRCm39)	missense	probably benign	0.07
R4489:Csmd2	UTSW	4	128,275,738 (GRCm39)	missense	possibly damaging	0.68
R4571:Csmd2	UTSW	4	128,373,888 (GRCm39)	splice site	probably null
R4581:Csmd2	UTSW	4	128,262,881 (GRCm39)	missense	probably benign	0.02
R4599:Csmd2	UTSW	4	127,881,921 (GRCm39)	missense	probably benign	0.35
R4649:Csmd2	UTSW	4	128,439,866 (GRCm39)	missense	probably benign
R4706:Csmd2	UTSW	4	128,438,544 (GRCm39)	missense	probably benign
R4776:Csmd2	UTSW	4	128,336,685 (GRCm39)	missense	probably benign	0.09
R4838:Csmd2	UTSW	4	128,411,542 (GRCm39)	missense	probably benign
R4900:Csmd2	UTSW	4	128,346,318 (GRCm39)	missense	probably benign	0.03
R4999:Csmd2	UTSW	4	128,415,723 (GRCm39)	missense	probably benign	0.00
R5024:Csmd2	UTSW	4	128,215,141 (GRCm39)	missense	possibly damaging	0.94
R5034:Csmd2	UTSW	4	127,952,901 (GRCm39)	missense	probably damaging	0.98
R5152:Csmd2	UTSW	4	128,445,828 (GRCm39)	missense	probably benign	0.27
R5231:Csmd2	UTSW	4	128,439,842 (GRCm39)	missense	probably benign	0.00
R5279:Csmd2	UTSW	4	128,350,707 (GRCm39)	missense	probably benign	0.30
R5287:Csmd2	UTSW	4	128,380,677 (GRCm39)	missense	probably benign	0.01
R5403:Csmd2	UTSW	4	128,380,677 (GRCm39)	missense	probably benign	0.01
R5410:Csmd2	UTSW	4	128,442,612 (GRCm39)	missense	probably benign
R5551:Csmd2	UTSW	4	128,404,741 (GRCm39)	missense	possibly damaging	0.83
R5566:Csmd2	UTSW	4	128,356,682 (GRCm39)	critical splice donor site	probably null
R5826:Csmd2	UTSW	4	128,412,992 (GRCm39)	splice site	probably null
R5907:Csmd2	UTSW	4	128,091,178 (GRCm39)	missense	probably damaging	0.99
R5913:Csmd2	UTSW	4	128,445,781 (GRCm39)	missense	probably benign	0.01
R5970:Csmd2	UTSW	4	128,439,944 (GRCm39)	missense	probably benign	0.00
R5977:Csmd2	UTSW	4	127,952,827 (GRCm39)	missense	probably damaging	1.00
R6027:Csmd2	UTSW	4	128,453,739 (GRCm39)	missense	unknown
R6075:Csmd2	UTSW	4	128,380,658 (GRCm39)	missense	probably benign	0.15
R6129:Csmd2	UTSW	4	128,387,127 (GRCm39)	missense	possibly damaging	0.79
R6363:Csmd2	UTSW	4	128,294,172 (GRCm39)	missense	probably benign	0.00
R6366:Csmd2	UTSW	4	128,377,245 (GRCm39)	missense	probably benign	0.00
R6404:Csmd2	UTSW	4	128,415,743 (GRCm39)	missense	possibly damaging	0.90
R6437:Csmd2	UTSW	4	127,881,893 (GRCm39)	missense	probably benign	0.24
R6441:Csmd2	UTSW	4	128,288,757 (GRCm39)	missense	probably benign	0.03
R6643:Csmd2	UTSW	4	128,266,390 (GRCm39)	missense	probably benign	0.14
R6724:Csmd2	UTSW	4	128,457,164 (GRCm39)	missense	probably damaging	0.97
R6734:Csmd2	UTSW	4	128,357,606 (GRCm39)	missense	probably benign	0.00
R6750:Csmd2	UTSW	4	128,091,018 (GRCm39)	missense	possibly damaging	0.91
R6801:Csmd2	UTSW	4	128,277,743 (GRCm39)	missense	probably benign	0.11
R6842:Csmd2	UTSW	4	128,402,952 (GRCm39)	missense	possibly damaging	0.72
R6843:Csmd2	UTSW	4	128,357,587 (GRCm39)	missense	probably benign	0.27
R6868:Csmd2	UTSW	4	128,336,633 (GRCm39)	missense	probably benign
R6882:Csmd2	UTSW	4	128,343,062 (GRCm39)	missense	probably benign	0.01
R7019:Csmd2	UTSW	4	128,262,856 (GRCm39)	missense
R7028:Csmd2	UTSW	4	128,171,021 (GRCm39)	missense
R7096:Csmd2	UTSW	4	128,356,519 (GRCm39)	missense
R7122:Csmd2	UTSW	4	128,343,020 (GRCm39)	missense
R7125:Csmd2	UTSW	4	128,389,955 (GRCm39)	missense
R7197:Csmd2	UTSW	4	128,404,826 (GRCm39)	missense
R7234:Csmd2	UTSW	4	128,350,572 (GRCm39)	missense
R7299:Csmd2	UTSW	4	128,422,055 (GRCm39)	missense
R7301:Csmd2	UTSW	4	128,422,055 (GRCm39)	missense
R7319:Csmd2	UTSW	4	128,287,472 (GRCm39)	missense
R7331:Csmd2	UTSW	4	128,458,021 (GRCm39)	splice site	probably null
R7332:Csmd2	UTSW	4	128,313,360 (GRCm39)	missense
R7352:Csmd2	UTSW	4	128,451,429 (GRCm39)	missense
R7402:Csmd2	UTSW	4	128,215,889 (GRCm39)	missense
R7402:Csmd2	UTSW	4	128,215,888 (GRCm39)	missense
R7474:Csmd2	UTSW	4	128,439,920 (GRCm39)	missense
R7555:Csmd2	UTSW	4	128,346,251 (GRCm39)	missense
R7592:Csmd2	UTSW	4	128,357,591 (GRCm39)	missense
R7700:Csmd2	UTSW	4	128,439,549 (GRCm39)	splice site	probably null
R7714:Csmd2	UTSW	4	128,276,743 (GRCm39)	nonsense	probably null
R7734:Csmd2	UTSW	4	128,445,850 (GRCm39)	missense
R7735:Csmd2	UTSW	4	128,350,723 (GRCm39)	critical splice donor site	probably null
R7757:Csmd2	UTSW	4	128,377,249 (GRCm39)	missense
R7805:Csmd2	UTSW	4	128,313,366 (GRCm39)	missense
R7823:Csmd2	UTSW	4	128,103,698 (GRCm39)	missense
R7904:Csmd2	UTSW	4	128,313,346 (GRCm39)	missense
R7946:Csmd2	UTSW	4	128,414,058 (GRCm39)	missense
R7964:Csmd2	UTSW	4	128,417,303 (GRCm39)	missense
R7968:Csmd2	UTSW	4	128,091,118 (GRCm39)	missense
R8003:Csmd2	UTSW	4	128,432,980 (GRCm39)	nonsense	probably null
R8071:Csmd2	UTSW	4	128,287,331 (GRCm39)	missense
R8504:Csmd2	UTSW	4	128,440,483 (GRCm39)	missense
R8511:Csmd2	UTSW	4	128,262,692 (GRCm39)	missense
R8517:Csmd2	UTSW	4	128,446,479 (GRCm39)	missense
R8704:Csmd2	UTSW	4	128,091,147 (GRCm39)	missense
R8722:Csmd2	UTSW	4	128,445,743 (GRCm39)	unclassified	probably benign
R8729:Csmd2	UTSW	4	128,356,638 (GRCm39)	missense
R8801:Csmd2	UTSW	4	128,457,195 (GRCm39)	missense	probably damaging	0.97
R8803:Csmd2	UTSW	4	128,440,477 (GRCm39)	missense
R8839:Csmd2	UTSW	4	128,336,681 (GRCm39)	missense
R8867:Csmd2	UTSW	4	128,451,469 (GRCm39)	missense
R8913:Csmd2	UTSW	4	128,417,351 (GRCm39)	missense
R8928:Csmd2	UTSW	4	128,369,582 (GRCm39)	missense
R8974:Csmd2	UTSW	4	128,446,380 (GRCm39)	missense
R9001:Csmd2	UTSW	4	128,308,079 (GRCm39)	missense
R9132:Csmd2	UTSW	4	128,443,007 (GRCm39)	missense
R9245:Csmd2	UTSW	4	128,200,168 (GRCm39)	missense
R9249:Csmd2	UTSW	4	128,313,323 (GRCm39)	nonsense	probably null
R9254:Csmd2	UTSW	4	128,091,112 (GRCm39)	missense
R9265:Csmd2	UTSW	4	128,294,163 (GRCm39)	missense
R9407:Csmd2	UTSW	4	128,442,613 (GRCm39)	missense
R9432:Csmd2	UTSW	4	128,171,004 (GRCm39)	missense
R9559:Csmd2	UTSW	4	128,438,561 (GRCm39)	missense
R9673:Csmd2	UTSW	4	128,308,062 (GRCm39)	missense
R9735:Csmd2	UTSW	4	128,402,901 (GRCm39)	missense
R9749:Csmd2	UTSW	4	128,389,921 (GRCm39)	missense
R9803:Csmd2	UTSW	4	128,262,986 (GRCm39)	missense
Z1177:Csmd2	UTSW	4	128,424,590 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TGGCCCATTGTCTACCTAGC -3'
(R):5'- AATCCTCTTCCTGTGGCCAG -3'

Sequencing Primer
(F):5'- CTACCTAGCATTTGTCATTTAGTAGG -3'
(R):5'- GCCAGTGGTAGGCTTCAG -3'

Posted On

2016-07-06