Mutagenetix > Incidental Mutation

Incidental Mutation 'R6027:Csmd2'

480100

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

044199-MU

Accession Numbers

Essential gene?

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

Stock #

R6027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127881650-128461449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128453739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 3475 (D3475N)

Ref Sequence

ENSEMBL: ENSMUSP00000138958 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000184063
AA Change: D3475N

Predicted Effect

unknown
Transcript: ENSMUST00000221199
AA Change: D165N

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,289,003 (GRCm39)	V2299A	probably benign	Het
Acacb	A	G	5: 114,303,661 (GRCm39)	D28G	probably benign	Het
Adamts6	G	A	13: 104,616,043 (GRCm39)	G1035D	probably damaging	Het
Adamts7	A	C	9: 90,073,078 (GRCm39)	Y755S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ank2	T	C	3: 126,791,528 (GRCm39)	T763A	possibly damaging	Het
Armc9	G	C	1: 86,172,389 (GRCm39)	L105F	probably damaging	Het
Asah2	T	C	19: 32,022,351 (GRCm39)	N228D	probably benign	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,390,794 (GRCm39)	V693G	probably damaging	Het
Bptf	T	C	11: 106,965,771 (GRCm39)	E1141G	probably damaging	Het
Col12a1	C	T	9: 79,563,860 (GRCm39)		probably null	Het
Dctn5	T	C	7: 121,732,564 (GRCm39)		probably benign	Het
Dhrs4	A	G	14: 55,723,580 (GRCm39)	K18E	probably benign	Het
Eci2	A	T	13: 35,169,930 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,851,922 (GRCm39)	F319L	probably benign	Het
Elane	A	T	10: 79,722,852 (GRCm39)	H86L	probably damaging	Het
Endod1	A	T	9: 14,268,893 (GRCm39)	Y197*	probably null	Het
Eno4	A	G	19: 58,935,262 (GRCm39)	D158G	probably damaging	Het
Fam217a	T	A	13: 35,094,977 (GRCm39)	T170S	possibly damaging	Het
Fbxo7	A	G	10: 85,883,950 (GRCm39)	D517G	probably damaging	Het
Fkbp3	G	T	12: 65,120,692 (GRCm39)	A2E	possibly damaging	Het
Gan	A	G	8: 117,885,034 (GRCm39)	Y54C	probably damaging	Het
Gdap1l1	T	A	2: 163,293,531 (GRCm39)	N194K	possibly damaging	Het
Gnptab	A	G	10: 88,269,087 (GRCm39)	T597A	probably damaging	Het
Hmcn1	A	G	1: 150,678,646 (GRCm39)	S492P	possibly damaging	Het
Hmox1	C	A	8: 75,823,499 (GRCm39)	H56N	probably damaging	Het
Kank3	C	T	17: 34,037,088 (GRCm39)	P131S	possibly damaging	Het
Kif14	T	C	1: 136,410,797 (GRCm39)		probably null	Het
Kif1a	A	T	1: 92,953,365 (GRCm39)	M1274K	probably benign	Het
Kmt2a	A	T	9: 44,730,587 (GRCm39)		probably benign	Het
Lypla1	T	C	1: 4,907,299 (GRCm39)		probably null	Het
Man2b1	C	T	8: 85,823,381 (GRCm39)	T905I	probably damaging	Het
Mmp15	C	A	8: 96,098,804 (GRCm39)	H544N	probably benign	Het
Myh7	A	T	14: 55,208,259 (GRCm39)	N1933K	probably benign	Het
Ndst4	G	T	3: 125,507,025 (GRCm39)	A730S	probably benign	Het
Nmur1	G	A	1: 86,315,053 (GRCm39)	Q238*	probably null	Het
Nwd2	C	T	5: 63,965,563 (GRCm39)	P1716S	possibly damaging	Het
Or13c7c	A	G	4: 43,835,842 (GRCm39)	V216A	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8k38	T	G	2: 86,488,148 (GRCm39)	Y218S	probably damaging	Het
P2ry6	T	G	7: 100,587,715 (GRCm39)	M215L	probably benign	Het
Parp4	G	A	14: 56,866,615 (GRCm39)	E1060K	probably benign	Het
Pde10a	A	G	17: 9,183,509 (GRCm39)	I822V	possibly damaging	Het
Pira13	T	C	7: 3,827,638 (GRCm39)	Y173C	possibly damaging	Het
Pkd1l1	C	A	11: 8,866,272 (GRCm39)	G528*	probably null	Het
Ptk2	T	A	15: 73,101,762 (GRCm39)	Q816L	probably damaging	Het
Ptprg	T	C	14: 12,220,613 (GRCm38)	F442L	possibly damaging	Het
Qrfpr	A	G	3: 36,276,187 (GRCm39)	Y68H	probably benign	Het
Ripk4	A	G	16: 97,545,274 (GRCm39)	W458R	probably damaging	Het
Ros1	G	T	10: 52,040,064 (GRCm39)	T309N	possibly damaging	Het
Rps27a	T	C	11: 29,497,808 (GRCm39)		probably benign	Het
Sarm1	T	A	11: 78,374,384 (GRCm39)	M577L	probably benign	Het
Scin	T	C	12: 40,127,515 (GRCm39)	Y425C	probably damaging	Het
Serpina12	T	A	12: 103,997,336 (GRCm39)	Y395F	probably benign	Het
Sfxn2	T	A	19: 46,571,291 (GRCm39)	Y69*	probably null	Het
Skint6	T	C	4: 112,953,761 (GRCm39)		probably null	Het
Slc7a1	A	C	5: 148,270,774 (GRCm39)	I564S	possibly damaging	Het
Smc6	T	A	12: 11,356,179 (GRCm39)	Y933N	probably benign	Het
Sp110	T	C	1: 85,505,039 (GRCm39)	S438G	possibly damaging	Het
St8sia4	T	A	1: 95,581,399 (GRCm39)	R114S	probably damaging	Het
Trim11	C	T	11: 58,869,289 (GRCm39)	A75V	possibly damaging	Het
Tufm	T	A	7: 126,086,920 (GRCm39)	H68Q	probably damaging	Het
Ythdc2	T	A	18: 44,993,503 (GRCm39)	D194E	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
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
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'- TGCAGGGGACATTTACACCAG -3'
(R):5'- GAGTCTTCAAACCTCTTTGAGCC -3'

Sequencing Primer
(F):5'- GGGGACATTTACACCAGTGTCTAC -3'
(R):5'- GAGCCCCACTTTTCCCAG -3'

Posted On

2017-06-26