Mutagenetix > Incidental Mutation

Incidental Mutation 'R5932:Cadm1'

461936

Institutional Source

Beutler Lab

Gene Symbol

Cadm1

Ensembl Gene

ENSMUSG00000032076

Gene Name

cell adhesion molecule 1

Synonyms

RA175N, RA175B, 2900073G06Rik, 3100001I08Rik, Tslc1, Igsf4, RA175A, SgIGSF, SynCam, Necl2, RA175C, Igsf4a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47441471-47769413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 47710749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 217 (D217E)

Ref Sequence

ENSEMBL: ENSMUSP00000124555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034581] [ENSMUST00000085909] [ENSMUST00000114547] [ENSMUST00000114548] [ENSMUST00000143026] [ENSMUST00000152459]

AlphaFold

Q8R5M8

Predicted Effect

probably damaging
Transcript: ENSMUST00000034581
AA Change: D217E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034581
Gene: ENSMUSG00000032076
AA Change: D217E

Domain	Start	End	E-Value	Type
low complexity region	13	41	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
low complexity region	345	360	N/A	INTRINSIC
4.1m	370	388	1.5e-3	SMART
low complexity region	389	396	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000085909
AA Change: D217E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083073
Gene: ENSMUSG00000032076
AA Change: D217E

Domain	Start	End	E-Value	Type
low complexity region	13	41	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
low complexity region	336	368	N/A	INTRINSIC
low complexity region	384	399	N/A	INTRINSIC
4.1m	409	427	1.5e-3	SMART
low complexity region	428	435	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114547
AA Change: D217E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110194
Gene: ENSMUSG00000032076
AA Change: D217E

Domain	Start	End	E-Value	Type
low complexity region	13	41	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
low complexity region	336	362	N/A	INTRINSIC
low complexity region	373	388	N/A	INTRINSIC
4.1m	398	416	1.5e-3	SMART
low complexity region	417	424	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114548
AA Change: D217E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110195
Gene: ENSMUSG00000032076
AA Change: D217E

Domain	Start	End	E-Value	Type
low complexity region	13	41	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
low complexity region	356	371	N/A	INTRINSIC
4.1m	381	399	1.5e-3	SMART
low complexity region	400	407	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124073

Predicted Effect

probably damaging
Transcript: ENSMUST00000143026
AA Change: D217E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124555
Gene: ENSMUSG00000032076
AA Change: D217E

Domain	Start	End	E-Value	Type
low complexity region	13	41	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
transmembrane domain	349	371	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151624

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152459
AA Change: D217E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124119
Gene: ENSMUSG00000032076
AA Change: D217E

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
IG	52	144	3.33e-9	SMART
IG_like	160	230	8.08e-1	SMART
IGc2	261	323	2.08e-10	SMART
low complexity region	336	368	N/A	INTRINSIC
low complexity region	402	417	N/A	INTRINSIC
4.1m	427	445	1.5e-3	SMART
low complexity region	446	453	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant male show infertility due to block in maturation of spermatogenesis. Mice homozygous for a gene trap allele exhibit decreased body size, impaired T cell development, and impaired T cell response to anti-CD3/CD28 antibody stimulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,870,518 (GRCm39)	S7T	possibly damaging	Het
Aatk	C	T	11: 119,912,359 (GRCm39)	G29S	probably damaging	Het
Akap1	A	G	11: 88,722,585 (GRCm39)	L890P	probably damaging	Het
Akap13	T	A	7: 75,259,932 (GRCm39)	M49K	probably damaging	Het
Ankrd17	A	T	5: 90,413,295 (GRCm39)	N1206K	probably damaging	Het
Bbs7	G	A	3: 36,636,847 (GRCm39)	T480I	probably benign	Het
Bbs9	A	G	9: 22,723,627 (GRCm39)	E769G	probably damaging	Het
Bpgm	T	A	6: 34,464,860 (GRCm39)	S192R	probably damaging	Het
Brinp1	C	A	4: 68,711,178 (GRCm39)	K343N	probably benign	Het
Cabyr	T	G	18: 12,887,407 (GRCm39)	V185G	probably damaging	Het
Camk1g	T	A	1: 193,036,347 (GRCm39)	E171V	probably benign	Het
Casz1	T	A	4: 149,023,570 (GRCm39)	M825K	possibly damaging	Het
Ccdc27	A	G	4: 154,111,231 (GRCm39)	V627A	probably benign	Het
Ccdc40	T	G	11: 119,141,838 (GRCm39)	I808R	probably damaging	Het
Cdh23	G	A	10: 60,228,763 (GRCm39)	R1140C	probably damaging	Het
Celsr1	A	G	15: 85,916,905 (GRCm39)	V356A	probably damaging	Het
Cep126	T	A	9: 8,103,509 (GRCm39)	D167V	probably damaging	Het
Chmp4b	C	T	2: 154,533,201 (GRCm39)	T147I	probably benign	Het
Clstn3	A	T	6: 124,415,291 (GRCm39)	M728K	probably benign	Het
Col7a1	A	T	9: 108,809,279 (GRCm39)	E2618V	unknown	Het
Cplane1	T	A	15: 8,274,079 (GRCm39)		probably null	Het
Crls1	T	A	2: 132,706,087 (GRCm39)	Y170*	probably null	Het
Dennd2b	G	A	7: 109,169,223 (GRCm39)	T24M	probably damaging	Het
Epas1	T	G	17: 87,135,074 (GRCm39)	I569S	possibly damaging	Het
Fhl3	T	C	4: 124,599,520 (GRCm39)	Y32H	probably damaging	Het
Fibp	G	A	19: 5,514,453 (GRCm39)	G333D	probably benign	Het
Frmd4a	C	T	2: 4,534,650 (GRCm39)	T156I	probably damaging	Het
Gcn1	T	C	5: 115,730,435 (GRCm39)	L873P	possibly damaging	Het
Gpr141b	C	A	13: 19,913,646 (GRCm39)		noncoding transcript	Het
Hectd3	G	A	4: 116,859,470 (GRCm39)	R698H	possibly damaging	Het
Il17a	T	C	1: 20,803,977 (GRCm39)	V124A	probably damaging	Het
Kif14	A	T	1: 136,444,128 (GRCm39)	E1373D	probably benign	Het
Klra4	C	T	6: 130,030,016 (GRCm39)	V190M	possibly damaging	Het
Kmt2a	T	C	9: 44,731,944 (GRCm39)		probably benign	Het
L3mbtl1	GGCCG	GG	2: 162,809,256 (GRCm39)		probably benign	Het
Lamb2	T	C	9: 108,357,810 (GRCm39)	I111T	probably damaging	Het
Lrch3	A	T	16: 32,796,106 (GRCm39)	D204V	probably damaging	Het
Mansc1	C	A	6: 134,587,478 (GRCm39)	R233L	possibly damaging	Het
Mkrn3	A	G	7: 62,068,655 (GRCm39)	C379R	probably damaging	Het
Ncoa3	T	A	2: 165,912,045 (GRCm39)		probably null	Het
Neu3	A	T	7: 99,462,525 (GRCm39)	C399*	probably null	Het
Or10ad1	T	G	15: 98,105,296 (GRCm39)	*323S	probably null	Het
Or52e8	G	A	7: 104,624,862 (GRCm39)	T114M	probably damaging	Het
Pcare	T	C	17: 72,058,748 (GRCm39)	R310G	probably damaging	Het
Pde5a	T	C	3: 122,634,693 (GRCm39)	F713L	probably benign	Het
Pdk1	T	A	2: 71,713,760 (GRCm39)		probably null	Het
Plin4	A	G	17: 56,413,356 (GRCm39)	V423A	possibly damaging	Het
Pstpip1	T	A	9: 56,033,214 (GRCm39)	Y249N	probably damaging	Het
Ptprf	A	T	4: 118,068,964 (GRCm39)	C1673S	probably benign	Het
Pum1	A	G	4: 130,457,677 (GRCm39)	T230A	probably benign	Het
Qsox1	A	T	1: 155,665,079 (GRCm39)	D287E	probably benign	Het
Rad51ap2	A	G	12: 11,508,387 (GRCm39)	N770D	probably damaging	Het
Rtp3	T	A	9: 110,815,760 (GRCm39)	I202F	probably benign	Het
Slc26a4	C	T	12: 31,585,248 (GRCm39)		probably null	Het
Spmip7	A	G	11: 11,438,513 (GRCm39)		probably benign	Het
Sptbn1	C	G	11: 30,086,136 (GRCm39)	V1191L	probably damaging	Het
Tead2	T	C	7: 44,882,323 (GRCm39)	Y121H	probably benign	Het
Thsd7b	T	C	1: 129,358,575 (GRCm39)	L3P	probably benign	Het
Trim24	T	C	6: 37,934,010 (GRCm39)	I651T	probably damaging	Het
Usp2	A	G	9: 44,003,630 (GRCm39)	I481V	probably benign	Het
Vps13d	C	A	4: 144,771,611 (GRCm39)	V4056F	possibly damaging	Het
Yeats2	A	G	16: 20,011,913 (GRCm39)	E496G	probably benign	Het
Zap70	A	G	1: 36,820,227 (GRCm39)	K503E	probably damaging	Het
Zbtb46	A	G	2: 181,053,713 (GRCm39)	L333P	probably benign	Het
Zfc3h1	A	T	10: 115,236,815 (GRCm39)	T430S	probably benign	Het
Zfp618	C	T	4: 63,036,803 (GRCm39)	R368*	probably null	Het

Other mutations in Cadm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01697:Cadm1	APN	9	47,761,622 (GRCm39)	missense	probably damaging	1.00
IGL01899:Cadm1	APN	9	47,721,389 (GRCm39)	missense	probably damaging	0.97
IGL02154:Cadm1	APN	9	47,725,201 (GRCm39)	missense	probably benign	0.00
IGL03196:Cadm1	APN	9	47,710,675 (GRCm39)	missense	possibly damaging	0.81
R0053:Cadm1	UTSW	9	47,710,712 (GRCm39)	missense	probably damaging	1.00
R0053:Cadm1	UTSW	9	47,710,712 (GRCm39)	missense	probably damaging	1.00
R0058:Cadm1	UTSW	9	47,761,629 (GRCm39)	missense	probably damaging	1.00
R0058:Cadm1	UTSW	9	47,761,629 (GRCm39)	missense	probably damaging	1.00
R0671:Cadm1	UTSW	9	47,725,104 (GRCm39)	missense	probably benign	0.30
R0717:Cadm1	UTSW	9	47,721,366 (GRCm39)	missense	probably benign	0.14
R1622:Cadm1	UTSW	9	47,725,139 (GRCm39)	missense	probably benign	0.35
R1817:Cadm1	UTSW	9	47,740,668 (GRCm39)	splice site	probably benign
R1958:Cadm1	UTSW	9	47,761,633 (GRCm39)	missense	probably damaging	1.00
R3124:Cadm1	UTSW	9	47,710,775 (GRCm39)	missense	possibly damaging	0.94
R4214:Cadm1	UTSW	9	47,708,741 (GRCm39)	missense	probably damaging	0.99
R4449:Cadm1	UTSW	9	47,441,735 (GRCm39)	missense	possibly damaging	0.85
R4449:Cadm1	UTSW	9	47,725,286 (GRCm39)	intron	probably benign
R4701:Cadm1	UTSW	9	47,730,120 (GRCm39)	splice site	probably benign
R6013:Cadm1	UTSW	9	47,768,572 (GRCm39)	unclassified	probably benign
R6315:Cadm1	UTSW	9	47,721,417 (GRCm39)	missense	probably damaging	0.98
R6481:Cadm1	UTSW	9	47,699,407 (GRCm39)	missense	probably damaging	1.00
R7121:Cadm1	UTSW	9	47,710,708 (GRCm39)	missense	probably damaging	1.00
R7582:Cadm1	UTSW	9	47,708,740 (GRCm39)	missense	probably damaging	0.99
R8710:Cadm1	UTSW	9	47,759,466 (GRCm39)	missense	probably damaging	0.99
R8943:Cadm1	UTSW	9	47,701,136 (GRCm39)	missense	probably damaging	0.99
R9258:Cadm1	UTSW	9	47,710,730 (GRCm39)	missense	probably benign	0.01
R9300:Cadm1	UTSW	9	47,708,821 (GRCm39)	nonsense	probably null
R9675:Cadm1	UTSW	9	47,441,752 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGACCTATGACGTTGCCATCTTG -3'
(R):5'- TTACAGTAGCCCTTCAGCAGG -3'

Sequencing Primer
(F):5'- GACGTTGCCATCTTGTTACCTAAGG -3'
(R):5'- TTTGATCACTCTTCTACCAGAACAAC -3'

Posted On

2017-02-28