Mutagenetix > Incidental Mutation

Incidental Mutation 'R0722:Crtam'

63565

Institutional Source

Beutler Lab

Gene Symbol

Crtam

Ensembl Gene

ENSMUSG00000032021

Gene Name

cytotoxic and regulatory T cell molecule

Synonyms

class I-restricted T cell-associated molecule

MMRRC Submission

038904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0722 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

40880987-40915922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40903912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 96 (C96S)

Ref Sequence

ENSEMBL: ENSMUSP00000139826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034519] [ENSMUST00000180384] [ENSMUST00000188848]

AlphaFold

Q149L7

Predicted Effect

probably damaging
Transcript: ENSMUST00000034519
AA Change: C96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034519
Gene: ENSMUSG00000032021
AA Change: C96S

Domain	Start	End	E-Value	Type
IG	21	113	4.7e-9	SMART
Pfam:C2-set_2	119	205	2.7e-16	PFAM
low complexity region	222	239	N/A	INTRINSIC
transmembrane domain	283	305	N/A	INTRINSIC
low complexity region	326	345	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000180384
AA Change: C96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137837
Gene: ENSMUSG00000032021
AA Change: C96S

Domain	Start	End	E-Value	Type
IG	21	113	4.7e-9	SMART
Pfam:C2-set_2	119	205	4.2e-15	PFAM
low complexity region	229	246	N/A	INTRINSIC
transmembrane domain	290	312	N/A	INTRINSIC
low complexity region	333	352	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000188848
AA Change: C96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139826
Gene: ENSMUSG00000032021
AA Change: C96S

Domain	Start	End	E-Value	Type
IG	21	113	4.7e-9	SMART
Pfam:C2-set_2	119	205	1.9e-15	PFAM
low complexity region	229	246	N/A	INTRINSIC
transmembrane domain	289	311	N/A	INTRINSIC
low complexity region	332	351	N/A	INTRINSIC

Meta Mutation Damage Score

0.9527

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 91.7%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]
PHENOTYPE: Homozygous null mice have defects in late stage T cell activation that leads to less production of inflammatory cytokines, higher proliferation, and an increase in T cell number with age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap2	T	C	11: 80,047,810 (GRCm39)	F89L	possibly damaging	Het
Akr1c13	A	G	13: 4,247,931 (GRCm39)		probably null	Het
Atp10a	A	G	7: 58,465,931 (GRCm39)	I1053V	possibly damaging	Het
Bmper	G	T	9: 23,285,224 (GRCm39)	V258L	probably benign	Het
Brd4	T	C	17: 32,431,956 (GRCm39)	H636R	possibly damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Ccbe1	C	T	18: 66,217,877 (GRCm39)	C112Y	probably damaging	Het
Ccdc28b	T	A	4: 129,514,945 (GRCm39)		probably null	Het
Cd320	T	C	17: 34,065,004 (GRCm39)	S46P	possibly damaging	Het
Cfap251	T	A	5: 123,394,248 (GRCm39)	V379E	probably damaging	Het
Cfap44	G	A	16: 44,225,039 (GRCm39)	E95K	possibly damaging	Het
Clpp	T	C	17: 57,299,901 (GRCm39)	V144A	probably damaging	Het
Dcst1	C	T	3: 89,261,112 (GRCm39)	R480H	probably benign	Het
Dock2	A	T	11: 34,414,970 (GRCm39)		probably benign	Het
Ermard	A	G	17: 15,242,390 (GRCm39)	T189A	probably benign	Het
Gm10840	A	G	11: 106,051,902 (GRCm39)		probably benign	Het
Gm4845	T	A	1: 141,184,598 (GRCm39)		noncoding transcript	Het
Heatr1	A	G	13: 12,420,918 (GRCm39)	E403G	probably benign	Het
Herc4	A	G	10: 63,121,844 (GRCm39)	I399V	probably null	Het
Htr1f	A	G	16: 64,746,254 (GRCm39)	I346T	probably damaging	Het
Igf2r	T	C	17: 12,934,382 (GRCm39)		probably null	Het
Jmy	G	A	13: 93,589,325 (GRCm39)	T644I	probably benign	Het
Kcnn2	T	C	18: 45,692,543 (GRCm39)	C40R	possibly damaging	Het
Krt13	T	G	11: 100,009,979 (GRCm39)	K297T	probably damaging	Het
Lrba	T	C	3: 86,513,296 (GRCm39)		probably null	Het
Lrrc8b	T	C	5: 105,627,978 (GRCm39)	V108A	possibly damaging	Het
Lrrc8c	T	A	5: 105,727,414 (GRCm39)	V26E	probably damaging	Het
Or10g6	A	G	9: 39,934,295 (GRCm39)	D202G	probably damaging	Het
Or5p6	A	G	7: 107,631,541 (GRCm39)	F3S	probably benign	Het
Pcna	A	G	2: 132,093,155 (GRCm39)		probably benign	Het
Pgm2	A	T	5: 64,265,022 (GRCm39)	R348*	probably null	Het
Pikfyve	T	G	1: 65,292,682 (GRCm39)	S1378A	probably damaging	Het
Pkp2	T	C	16: 16,064,892 (GRCm39)	V472A	probably benign	Het
Pld5	A	G	1: 175,803,081 (GRCm39)	F395L	probably benign	Het
Plekhb1	A	T	7: 100,294,810 (GRCm39)	Y169N	probably damaging	Het
Polr2c	T	A	8: 95,589,265 (GRCm39)	Y186N	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prr5l	A	G	2: 101,547,819 (GRCm39)		probably benign	Het
Ptbp2	C	T	3: 119,514,570 (GRCm39)	R419Q	possibly damaging	Het
Ralgapa2	A	G	2: 146,230,451 (GRCm39)	V1038A	probably damaging	Het
Rassf2	A	G	2: 131,844,830 (GRCm39)	V204A	probably damaging	Het
Slc22a22	T	C	15: 57,119,949 (GRCm39)		probably null	Het
Slit1	T	C	19: 41,596,874 (GRCm39)	Y1075C	probably damaging	Het
Smc5	C	A	19: 23,186,291 (GRCm39)	L1055F	probably damaging	Het
Spidr	A	G	16: 15,730,645 (GRCm39)	F620S	probably damaging	Het
Susd1	A	G	4: 59,379,749 (GRCm39)	S293P	possibly damaging	Het
Tepsin	A	G	11: 119,986,163 (GRCm39)		probably benign	Het
Vmn2r68	A	T	7: 84,870,794 (GRCm39)	L830I	possibly damaging	Het
Vtn	A	G	11: 78,391,680 (GRCm39)		probably benign	Het
Zfp267	C	T	3: 36,219,218 (GRCm39)	H414Y	probably benign	Het
Zfp280d	T	G	9: 72,219,383 (GRCm39)	S162A	possibly damaging	Het
Zfp608	T	G	18: 55,033,306 (GRCm39)	K409T	probably damaging	Het
Zfp738	A	T	13: 67,819,643 (GRCm39)	M116K	probably benign	Het

Other mutations in Crtam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02883:Crtam	APN	9	40,905,797 (GRCm39)	missense	probably benign
R1423:Crtam	UTSW	9	40,884,918 (GRCm39)	missense	probably benign	0.36
R1859:Crtam	UTSW	9	40,884,900 (GRCm39)	missense	possibly damaging	0.71
R1935:Crtam	UTSW	9	40,915,846 (GRCm39)	missense	probably benign	0.34
R1936:Crtam	UTSW	9	40,915,846 (GRCm39)	missense	probably benign	0.34
R2090:Crtam	UTSW	9	40,895,612 (GRCm39)	missense	possibly damaging	0.77
R2360:Crtam	UTSW	9	40,884,811 (GRCm39)	makesense	probably null
R4812:Crtam	UTSW	9	40,895,621 (GRCm39)	missense	probably damaging	0.99
R5995:Crtam	UTSW	9	40,905,836 (GRCm39)	missense	possibly damaging	0.75
R6021:Crtam	UTSW	9	40,901,477 (GRCm39)	missense	probably damaging	1.00
R7428:Crtam	UTSW	9	40,892,478 (GRCm39)	missense	probably benign	0.24
R8750:Crtam	UTSW	9	40,895,641 (GRCm39)	missense	probably benign	0.16
R9632:Crtam	UTSW	9	40,895,671 (GRCm39)	missense	probably benign	0.12
R9710:Crtam	UTSW	9	40,895,671 (GRCm39)	missense	probably benign	0.12
RF044:Crtam	UTSW	9	40,895,650 (GRCm39)	frame shift	probably null
RF057:Crtam	UTSW	9	40,895,650 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GCGATTCATTGTAACTTCAAAGTGGGC -3'
(R):5'- AAATCACAGCAGGGCACTCAGG -3'

Sequencing Primer
(F):5'- gctaccgagtctaagttcaatcc -3'
(R):5'- tggggcacatccttttcatc -3'

Posted On

2013-07-30