Mutagenetix > Incidental Mutation

Incidental Mutation 'R9559:Csmd2'

720903

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R9559 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127881650-128461449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 128438561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 3047 (G3047C)

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: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,021,019 (GRCm39)		probably null	Het
Ahnak2	C	T	12: 112,749,782 (GRCm39)		probably null	Het
Arhgef37	A	T	18: 61,640,267 (GRCm39)		probably null	Het
Asb14	T	C	14: 26,637,052 (GRCm39)	V598A	possibly damaging	Het
Baz1b	T	A	5: 135,216,532 (GRCm39)	F10Y	probably benign	Het
Bbc3	T	C	7: 16,047,660 (GRCm39)	V128A	probably benign	Het
C130073F10Rik	T	A	4: 101,747,946 (GRCm39)	Y76F	possibly damaging	Het
Cdc42bpa	G	A	1: 179,939,459 (GRCm39)		probably null	Het
Cfh	G	T	1: 140,030,275 (GRCm39)	P884Q	probably benign	Het
Cltc	T	C	11: 86,613,086 (GRCm39)	Y479C	probably damaging	Het
Col18a1	C	T	10: 76,913,630 (GRCm39)	G477E	probably damaging	Het
Col7a1	A	G	9: 108,786,360 (GRCm39)	N530S	unknown	Het
Cyb5r3	C	A	15: 83,043,123 (GRCm39)	E190*	probably null	Het
Dnah3	A	T	7: 119,650,951 (GRCm39)	V983D	probably benign	Het
Fcer1a	T	G	1: 173,052,884 (GRCm39)	Y104S	possibly damaging	Het
Fer1l6	A	G	15: 58,429,759 (GRCm39)	T169A	possibly damaging	Het
Gimap9	A	T	6: 48,655,134 (GRCm39)	K240N	probably benign	Het
Gmeb1	A	C	4: 131,953,140 (GRCm39)	V542G	probably benign	Het
Grb10	C	A	11: 11,895,535 (GRCm39)	R318L	probably damaging	Het
Gucy1b1	T	A	3: 81,947,054 (GRCm39)	D385V	possibly damaging	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Il18r1	T	A	1: 40,528,793 (GRCm39)	I279K	probably benign	Het
Il21r	A	G	7: 125,232,027 (GRCm39)	D485G	probably damaging	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Kdm4b	T	C	17: 56,693,228 (GRCm39)	L355P	probably damaging	Het
Kif26a	C	T	12: 112,142,004 (GRCm39)	R753W	probably damaging	Het
Krtcap2	C	T	3: 89,154,178 (GRCm39)	T33I	probably damaging	Het
Mettl17	G	A	14: 52,129,009 (GRCm39)		probably null	Het
Mov10	A	G	3: 104,708,277 (GRCm39)	F491L		Het
Mterf1a	C	T	5: 3,941,807 (GRCm39)	W20*	probably null	Het
Nck2	T	C	1: 43,593,207 (GRCm39)	V138A	probably damaging	Het
Or2h2c	C	T	17: 37,422,509 (GRCm39)	V122M	possibly damaging	Het
Or5ac24	C	A	16: 59,165,368 (GRCm39)	G232V	probably damaging	Het
Or5ak24	A	C	2: 85,260,753 (GRCm39)	V140G	possibly damaging	Het
Or7e173	A	G	9: 19,939,216 (GRCm39)	V6A	probably benign	Het
Osmr	A	G	15: 6,882,027 (GRCm39)	V39A	probably damaging	Het
Plekhh2	A	G	17: 84,899,017 (GRCm39)	H998R	probably damaging	Het
Prb1a	G	A	6: 132,184,388 (GRCm39)	S415F	unknown	Het
Prl3d1	C	T	13: 27,280,470 (GRCm39)	T73I	probably benign	Het
Scgn	A	G	13: 24,137,921 (GRCm39)	L250P	probably damaging	Het
Scyl3	T	C	1: 163,779,773 (GRCm39)	I580T	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Shank2	A	T	7: 143,585,041 (GRCm39)	Q14L	probably benign	Het
Slc22a12	T	A	19: 6,587,686 (GRCm39)	N423Y	probably damaging	Het
Tenm4	T	A	7: 96,473,056 (GRCm39)	S951T	probably benign	Het
Ubash3b	G	A	9: 40,954,926 (GRCm39)	P195S	probably damaging	Het
Vmn1r61	A	G	7: 5,613,498 (GRCm39)	F272S	probably damaging	Het
Zbtb41	A	T	1: 139,358,053 (GRCm39)	I454F	probably benign	Het
Zfp112	G	T	7: 23,826,108 (GRCm39)	C696F	probably damaging	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
R5172:Csmd2	UTSW	4	128,371,190 (GRCm39)	missense	probably benign	0.10
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
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'- AACAGCAGCATAAGATGTGCCC -3'
(R):5'- AGAGGCATTCGAACGGTTCC -3'

Sequencing Primer
(F):5'- ATAAGATGTGCCCCCATCTTTAGGG -3'
(R):5'- GCATTCGAACGGTTCCACTGTAATC -3'

Posted On

2022-08-09