Mutagenetix > Incidental Mutation

Incidental Mutation 'R8913:Csmd2'

678754

Institutional Source

Beutler Lab

Gene Symbol

Csmd2

Ensembl Gene

ENSMUSG00000028804

Gene Name

CUB and Sushi multiple domains 2

Synonyms

MMRRC Submission

068702-MU

Accession Numbers

Essential gene?

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

Stock #

R8913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127881650-128461449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128417351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 2770 (P2770T)

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: 99.6%
20x: 98.5%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,303,972 (GRCm39)	Y2102H	probably damaging	Het
Adam30	A	T	3: 98,068,580 (GRCm39)	I10F	possibly damaging	Het
Afap1l1	C	T	18: 61,889,910 (GRCm39)		probably null	Het
Asz1	T	C	6: 18,054,570 (GRCm39)	D411G	probably benign	Het
Atp8b2	A	G	3: 89,852,830 (GRCm39)	L144P		Het
Atxn7l3	G	T	11: 102,185,787 (GRCm39)	N13K	probably damaging	Het
Cap1	C	A	4: 122,761,445 (GRCm39)		probably null	Het
Cd244a	T	A	1: 171,401,774 (GRCm39)	Y167N	probably damaging	Het
Cd244a	A	T	1: 171,401,775 (GRCm39)	Y167F	probably damaging	Het
Cd302	A	G	2: 60,088,241 (GRCm39)	F92S	probably damaging	Het
Cep128	C	T	12: 91,331,221 (GRCm39)		probably null	Het
Cyp4f40	G	T	17: 32,886,810 (GRCm39)	D122Y	probably benign	Het
Dnah14	A	G	1: 181,553,063 (GRCm39)	E2583G	probably benign	Het
Dync1h1	T	C	12: 110,624,602 (GRCm39)	V3714A	probably benign	Het
Fam114a1	G	T	5: 65,185,821 (GRCm39)	A381S	possibly damaging	Het
Fzd8	A	G	18: 9,213,869 (GRCm39)	Y317C	probably damaging	Het
Igfn1	T	C	1: 135,891,579 (GRCm39)	K2312R	possibly damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Klhl23	G	A	2: 69,664,234 (GRCm39)	E528K	probably damaging	Het
Lama4	T	C	10: 38,982,039 (GRCm39)	V1756A	probably benign	Het
Lcn2	C	A	2: 32,277,158 (GRCm39)	V53F	possibly damaging	Het
Lrp4	T	C	2: 91,331,785 (GRCm39)	S1633P	probably benign	Het
Map3k19	A	G	1: 127,750,363 (GRCm39)	V996A	probably benign	Het
Mettl9	T	G	7: 120,675,539 (GRCm39)	F313C	probably damaging	Het
Mios	T	A	6: 8,215,924 (GRCm39)	H373Q	probably benign	Het
Mroh2b	A	G	15: 4,947,010 (GRCm39)		probably benign	Het
Myo1a	T	C	10: 127,541,710 (GRCm39)	V83A	probably benign	Het
Naxe	T	C	3: 87,965,665 (GRCm39)	T45A	probably benign	Het
Nckap1	A	G	2: 80,401,564 (GRCm39)	V40A	possibly damaging	Het
Nherf2	G	A	17: 24,863,839 (GRCm39)	S12L	probably benign	Het
Nmt1	G	T	11: 102,948,271 (GRCm39)	R265L	probably damaging	Het
Nwd2	C	A	5: 63,963,440 (GRCm39)	A1008D	possibly damaging	Het
Obsl1	C	T	1: 75,467,892 (GRCm39)	A1334T	probably benign	Het
Oplah	T	C	15: 76,181,680 (GRCm39)	M1114V		Het
Or10a3n	T	C	7: 108,492,736 (GRCm39)	R298G	probably damaging	Het
Or10a49	A	T	7: 108,467,809 (GRCm39)	V184E	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or2w6	A	G	13: 21,843,274 (GRCm39)	F73S	probably damaging	Het
Or4c29	A	G	2: 88,739,991 (GRCm39)	F249L	probably benign	Het
Pdlim5	A	T	3: 141,950,666 (GRCm39)	F582L	probably damaging	Het
Plcb2	A	G	2: 118,544,365 (GRCm39)	F671L	probably damaging	Het
Ppfibp1	T	A	6: 146,923,947 (GRCm39)	V725E	probably damaging	Het
Psmd11	C	T	11: 80,362,338 (GRCm39)	T396I	probably damaging	Het
Ptn	C	T	6: 36,718,276 (GRCm39)	D130N	probably benign	Het
Rasgrf2	T	C	13: 92,159,034 (GRCm39)	D473G	probably benign	Het
Robo1	A	C	16: 72,701,622 (GRCm39)	I163L	probably damaging	Het
Ror1	A	C	4: 100,265,027 (GRCm39)	D167A	possibly damaging	Het
Rps6ka5	T	C	12: 100,520,595 (GRCm39)	D709G		Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Runx2	T	C	17: 44,919,169 (GRCm39)	T472A	probably benign	Het
Scn11a	T	C	9: 119,623,094 (GRCm39)	T582A	probably damaging	Het
Serpina3m	C	T	12: 104,355,477 (GRCm39)	A48V	probably benign	Het
Smim8	T	A	4: 34,769,056 (GRCm39)	D76V	possibly damaging	Het
Sqor	A	G	2: 122,641,806 (GRCm39)	K260R	probably benign	Het
Syde2	A	T	3: 145,708,148 (GRCm39)	I963F	probably damaging	Het
Tasor	A	T	14: 27,188,145 (GRCm39)	N864Y	probably damaging	Het
Tenm4	G	A	7: 96,351,952 (GRCm39)		probably benign	Het
Tm7sf3	A	T	6: 146,527,621 (GRCm39)	Y68*	probably null	Het
Tmtc2	T	A	10: 105,158,887 (GRCm39)	I569F	probably damaging	Het
Upf3a	G	A	8: 13,845,728 (GRCm39)	V276M	possibly damaging	Het
Vmn1r174	G	A	7: 23,453,375 (GRCm39)	V14M	possibly damaging	Het
Vmn2r104	A	G	17: 20,249,968 (GRCm39)	S768P	probably damaging	Het
Vmn2r60	A	T	7: 41,785,778 (GRCm39)	T194S	probably benign	Het
Zfhx2	A	G	14: 55,309,543 (GRCm39)	M852T	probably benign	Het
Zfp207	T	A	11: 80,276,744 (GRCm39)	D19E	probably damaging	Het
Zfp318	G	A	17: 46,722,699 (GRCm39)	M1567I	probably benign	Het
Zfp407	T	A	18: 84,578,653 (GRCm39)	E820V	probably damaging	Het
Zfp512b	A	T	2: 181,227,282 (GRCm39)	C46S		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
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'- ATCAAAGCTGGACACTGTGGG -3'
(R):5'- CTGTGCCTGCGTGTAATACAATTC -3'

Sequencing Primer
(F):5'- GACTCCAGAGCCCATTGTC -3'
(R):5'- AAAACCTGTAGTTAATGATGGCACAG -3'

Posted On

2021-08-02