Mutagenetix > Incidental Mutation

Incidental Mutation 'R8710:Cadm1'

669511

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

MMRRC Submission

068564-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8710 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47441471-47769413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 47759466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 392 (D392E)

Ref Sequence

ENSEMBL: ENSMUSP00000124119 (fasta)

Gene Model

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

AlphaFold

Q8R5M8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034581
AA Change: D335E

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034581
Gene: ENSMUSG00000032076
AA Change: D335E

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: D374E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083073
Gene: ENSMUSG00000032076
AA Change: D374E

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

possibly damaging
Transcript: ENSMUST00000114547
AA Change: D363E

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110194
Gene: ENSMUSG00000032076
AA Change: D363E

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

possibly damaging
Transcript: ENSMUST00000114548
AA Change: D346E

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000110195
Gene: ENSMUSG00000032076
AA Change: D346E

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

probably benign
Transcript: ENSMUST00000143026
AA Change: D335E

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124555
Gene: ENSMUSG00000032076
AA Change: D335E

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

probably damaging
Transcript: ENSMUST00000152459
AA Change: D392E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124119
Gene: ENSMUSG00000032076
AA Change: D392E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 9,005,495 (GRCm39)	N1126S	probably damaging	Het
Ablim2	C	T	5: 36,030,518 (GRCm39)	A581V	possibly damaging	Het
Agpat5	T	A	8: 18,928,105 (GRCm39)	D223E	possibly damaging	Het
Anks3	A	C	16: 4,775,976 (GRCm39)	Y75*	probably null	Het
Ano5	T	G	7: 51,243,419 (GRCm39)	D847E	probably damaging	Het
Asb6	G	T	2: 30,717,072 (GRCm39)	T51K	probably benign	Het
Bahcc1	A	G	11: 120,174,953 (GRCm39)	E1702G	probably damaging	Het
Bend7	A	G	2: 4,767,925 (GRCm39)	M294V	probably benign	Het
Camkmt	T	C	17: 85,421,277 (GRCm39)		probably benign	Het
Cd300a	A	G	11: 114,785,501 (GRCm39)	T149A	probably benign	Het
Cd69	A	T	6: 129,246,573 (GRCm39)	W153R	possibly damaging	Het
Cdc25c	T	A	18: 34,882,666 (GRCm39)		probably benign	Het
Clnk	A	C	5: 38,931,940 (GRCm39)	C40W	possibly damaging	Het
Cthrc1	T	A	15: 38,947,821 (GRCm39)	L180Q	probably damaging	Het
Cyld	A	G	8: 89,436,523 (GRCm39)	N271S	probably damaging	Het
Dnah14	T	C	1: 181,517,876 (GRCm39)	I2070T	probably benign	Het
Dnah17	A	C	11: 117,932,973 (GRCm39)	L3595R	probably damaging	Het
Edrf1	A	G	7: 133,245,495 (GRCm39)	Y211C	probably damaging	Het
Efcab6	A	G	15: 83,902,849 (GRCm39)	I167T	probably benign	Het
Elavl3	A	T	9: 21,937,849 (GRCm39)	Y148N	probably damaging	Het
Ermardl2	A	T	17: 15,209,194 (GRCm39)	N342I	probably damaging	Het
Fam83c	A	G	2: 155,671,642 (GRCm39)	S598P	probably benign	Het
Gm38119	ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA	ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA	3: 92,645,197 (GRCm39)		probably benign	Het
Helb	A	G	10: 119,941,872 (GRCm39)	L272P	probably damaging	Het
Iars2	A	C	1: 185,027,783 (GRCm39)	V715G	probably benign	Het
Iqgap2	T	G	13: 95,796,756 (GRCm39)	N1133H	probably benign	Het
Kifc5b	T	A	17: 27,139,880 (GRCm39)	M43K	probably damaging	Het
Krtap7-1	T	A	16: 89,305,008 (GRCm39)	Y48F	possibly damaging	Het
Lag3	G	A	6: 124,885,408 (GRCm39)	T324I	probably damaging	Het
Mapkapk2	C	A	1: 130,986,448 (GRCm39)	A97S	possibly damaging	Het
Mettl4	A	G	17: 95,041,072 (GRCm39)	S361P	probably damaging	Het
Myh4	A	G	11: 67,143,158 (GRCm39)	T1029A	probably benign	Het
Nsl1	C	A	1: 190,795,420 (GRCm39)	A62D	probably benign	Het
Oas1e	T	A	5: 120,930,027 (GRCm39)	K164*	probably null	Het
Obsl1	A	G	1: 75,469,326 (GRCm39)	F1205S	probably benign	Het
Or14j2	G	T	17: 37,885,540 (GRCm39)	A258E	probably benign	Het
Or1e1b-ps1	G	A	11: 73,845,694 (GRCm39)	M59I	possibly damaging	Het
Or8c15	C	T	9: 38,121,066 (GRCm39)	A237V	possibly damaging	Het
Or8g18	T	A	9: 39,149,306 (GRCm39)	Y138F	probably benign	Het
Pald1	A	G	10: 61,183,232 (GRCm39)	F334S	probably benign	Het
Pikfyve	A	G	1: 65,255,155 (GRCm39)	E325G	possibly damaging	Het
Plekha8	A	G	6: 54,599,245 (GRCm39)	T215A	probably benign	Het
Ptprq	T	C	10: 107,411,919 (GRCm39)	R1816G	possibly damaging	Het
Ralgps1	G	A	2: 33,035,433 (GRCm39)	L472F	probably damaging	Het
Rasal1	A	T	5: 120,801,002 (GRCm39)	T221S	probably benign	Het
Rfx6	A	G	10: 51,601,501 (GRCm39)	T607A	probably damaging	Het
Rnf214	T	A	9: 45,778,748 (GRCm39)		probably benign	Het
Rtca	A	T	3: 116,291,303 (GRCm39)	Y226N	probably benign	Het
Sash1	T	A	10: 8,656,285 (GRCm39)	N236Y	possibly damaging	Het
Skint11	A	G	4: 114,051,951 (GRCm39)	I100V	probably benign	Het
Skint5	A	T	4: 113,483,787 (GRCm39)	S948R	unknown	Het
Slc25a13	A	T	6: 6,114,238 (GRCm39)	Y279N	probably benign	Het
Slc5a2	T	C	7: 127,864,966 (GRCm39)	L33P	probably damaging	Het
Slco1a5	A	T	6: 142,198,828 (GRCm39)	V279E	probably benign	Het
Ssh3	G	T	19: 4,313,833 (GRCm39)	H475Q	probably benign	Het
Tapt1	A	G	5: 44,351,743 (GRCm39)	S107P	probably benign	Het
Tjp2	T	C	19: 24,072,796 (GRCm39)	E1166G	probably damaging	Het
Tll1	A	G	8: 64,577,940 (GRCm39)	L89P	possibly damaging	Het
Tmc4	G	T	7: 3,678,463 (GRCm39)	T123N	probably benign	Het
Tmem139	A	G	6: 42,241,021 (GRCm39)	D202G	probably damaging	Het
Trim35	T	C	14: 66,545,367 (GRCm39)	S313P	probably damaging	Het
Ttc23l	A	G	15: 10,540,021 (GRCm39)	I154T	probably damaging	Het
Ttc9c	T	C	19: 8,795,860 (GRCm39)	T60A	probably benign	Het
Wdfy3	G	T	5: 102,030,349 (GRCm39)	N2386K	probably damaging	Het
Wdpcp	C	A	11: 21,610,924 (GRCm39)	Q49K	probably benign	Het
Xrn1	A	T	9: 95,884,285 (GRCm39)	Y867F		Het
Zfp423	C	T	8: 88,507,549 (GRCm39)	E932K	possibly damaging	Het
Zfp592	T	C	7: 80,673,321 (GRCm39)	F95S	probably damaging	Het
Zfp644	T	G	5: 106,782,997 (GRCm39)	N1095H	probably damaging	Het
Zfp983	A	T	17: 21,880,234 (GRCm39)	N54I	probably damaging	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
R5932:Cadm1	UTSW	9	47,710,749 (GRCm39)	missense	probably damaging	1.00
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
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'- TGTGCTGCCTCTAATGAAATGGC -3'
(R):5'- CTGTGGTGACATGTTGCTCC -3'

Sequencing Primer
(F):5'- ATCAATTCCGGACTGGTCAG -3'
(R):5'- GTGACATGTTGCTCCAGCCTG -3'

Posted On

2021-04-30