Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03117:Caprin2'

419452

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Caprin2

Ensembl Gene

ENSMUSG00000030309

Gene Name

caprin family member 2

Synonyms

RNG140, C1qdc1, Eeg1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03117

Quality Score

Status

Chromosome

Chromosomal Location

148743990-148797735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148763964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 568 (S568T)

Ref Sequence

ENSEMBL: ENSMUSP00000107195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072324] [ENSMUST00000111569]

AlphaFold

Q05A80

Predicted Effect

probably benign
Transcript: ENSMUST00000072324
AA Change: S349T

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000072165
Gene: ENSMUSG00000030309
AA Change: S349T

Domain	Start	End	E-Value	Type
coiled coil region	48	125	N/A	INTRINSIC
coiled coil region	239	264	N/A	INTRINSIC
Pfam:Caprin-1_C	317	618	1.2e-32	PFAM
C1Q	676	812	1.27e-35	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111569
AA Change: S568T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107195
Gene: ENSMUSG00000030309
AA Change: S568T

Domain	Start	End	E-Value	Type
coiled coil region	48	125	N/A	INTRINSIC
coiled coil region	239	264	N/A	INTRINSIC
low complexity region	330	344	N/A	INTRINSIC
Pfam:Caprin-1_C	536	836	2.9e-106	PFAM
C1Q	895	1031	1.27e-35	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154971

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the caprin family. The encoded protein may function as an RNA-binding protein that induces the formation of RNA granules and plays an important role in brain function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna2d3	A	G	14: 29,189,909 (GRCm39)	L109P	probably damaging	Het
Catip	A	G	1: 74,403,744 (GRCm39)	T154A	probably null	Het
Ccdc187	A	G	2: 26,177,980 (GRCm39)	S270P	possibly damaging	Het
Ccdc88a	A	G	11: 29,324,559 (GRCm39)	Y39C	probably damaging	Het
Chrdl2	A	T	7: 99,676,787 (GRCm39)	H203L	possibly damaging	Het
Chrnb2	A	G	3: 89,670,552 (GRCm39)	V62A	probably damaging	Het
Cklf	T	A	8: 104,984,055 (GRCm39)	S73T	possibly damaging	Het
Clk1	A	G	1: 58,456,166 (GRCm39)		probably null	Het
Ctdp1	T	C	18: 80,492,716 (GRCm39)	D593G	probably damaging	Het
Ctsc	A	T	7: 87,958,988 (GRCm39)	I423F	probably damaging	Het
D130043K22Rik	T	A	13: 25,073,825 (GRCm39)	V968E	probably damaging	Het
Dennd4c	A	G	4: 86,696,140 (GRCm39)	S166G	possibly damaging	Het
Dnah2	G	T	11: 69,327,117 (GRCm39)		probably benign	Het
Dnajb11	G	T	16: 22,687,888 (GRCm39)	R206L	probably benign	Het
Dsel	A	T	1: 111,786,908 (GRCm39)		probably benign	Het
Ehd2	T	C	7: 15,684,396 (GRCm39)	S468G	possibly damaging	Het
Ehmt2	T	A	17: 35,125,787 (GRCm39)	V640E	possibly damaging	Het
Elmo2	T	A	2: 165,140,573 (GRCm39)	E299D	probably benign	Het
Eps8l1	T	C	7: 4,473,886 (GRCm39)	L231P	probably damaging	Het
Esd	A	G	14: 74,978,686 (GRCm39)	T83A	probably damaging	Het
Flt3	A	G	5: 147,293,020 (GRCm39)	F529L	probably benign	Het
Hnrnpu	G	A	1: 178,158,339 (GRCm39)		probably benign	Het
Hpx	G	T	7: 105,249,278 (GRCm39)	A7E	possibly damaging	Het
Ighv6-5	C	T	12: 114,380,320 (GRCm39)	V85M	possibly damaging	Het
Itpr3	G	A	17: 27,338,240 (GRCm39)	V2503I	probably damaging	Het
Itprid1	A	G	6: 55,875,114 (GRCm39)	T355A	probably benign	Het
Matr3	G	T	18: 35,705,710 (GRCm39)	G212C	probably damaging	Het
Mrpl35	A	T	6: 71,793,263 (GRCm39)	Y129*	probably null	Het
Myh2	T	C	11: 67,071,710 (GRCm39)	I509T	possibly damaging	Het
Nat8l	G	T	5: 34,158,288 (GRCm39)	A233S	probably damaging	Het
Nipbl	A	C	15: 8,361,936 (GRCm39)	L1447W	probably damaging	Het
Paf1	T	A	7: 28,094,481 (GRCm39)	C31S	possibly damaging	Het
Parp4	A	C	14: 56,840,313 (GRCm39)	T573P	probably benign	Het
Phf12	A	T	11: 77,913,846 (GRCm39)		probably benign	Het
Pi4k2b	A	G	5: 52,905,765 (GRCm39)	E102G	probably benign	Het
Pou2f1	A	G	1: 165,762,382 (GRCm39)	C7R	probably benign	Het
Prpsap2	T	C	11: 61,631,815 (GRCm39)	R181G	probably benign	Het
Psd	A	G	19: 46,311,561 (GRCm39)		probably benign	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Rab21	A	T	10: 115,151,097 (GRCm39)		probably null	Het
Relb	T	C	7: 19,346,582 (GRCm39)	D330G	probably damaging	Het
Rhoc	A	T	3: 104,700,236 (GRCm39)	T100S	probably benign	Het
Ryr1	G	T	7: 28,802,389 (GRCm39)	H744N	probably damaging	Het
Sardh	C	T	2: 27,129,458 (GRCm39)	G280D	probably damaging	Het
Scyl2	A	C	10: 89,493,729 (GRCm39)	N346K	possibly damaging	Het
Sec16b	T	C	1: 157,362,970 (GRCm39)	F267S	probably damaging	Het
Slc44a5	T	A	3: 153,956,714 (GRCm39)	M322K	probably benign	Het
St8sia4	T	A	1: 95,519,508 (GRCm39)	N327Y	probably benign	Het
Tbl1xr1	T	A	3: 22,257,323 (GRCm39)	Y395*	probably null	Het
Unc13c	A	T	9: 73,441,307 (GRCm39)	S1897R	probably benign	Het
Vangl2	A	G	1: 171,840,415 (GRCm39)	S58P	probably damaging	Het
Vmn1r17	A	G	6: 57,337,501 (GRCm39)	I288T	probably benign	Het
Vmn1r236	A	G	17: 21,507,508 (GRCm39)	I209V	probably benign	Het
Zfp809	A	G	9: 22,149,950 (GRCm39)	Y149C	probably damaging	Het

Other mutations in Caprin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Caprin2	APN	6	148,744,569 (GRCm39)	missense	probably damaging	1.00
IGL01364:Caprin2	APN	6	148,774,526 (GRCm39)	missense	probably benign	0.00
IGL02738:Caprin2	APN	6	148,744,360 (GRCm39)	missense	probably damaging	1.00
IGL02819:Caprin2	APN	6	148,749,756 (GRCm39)	missense	probably damaging	0.99
IGL03123:Caprin2	APN	6	148,796,505 (GRCm39)	missense	probably damaging	1.00
IGL03378:Caprin2	APN	6	148,779,352 (GRCm39)	missense	probably benign	0.23
R0242:Caprin2	UTSW	6	148,744,452 (GRCm39)	missense	probably damaging	1.00
R0242:Caprin2	UTSW	6	148,744,452 (GRCm39)	missense	probably damaging	1.00
R0621:Caprin2	UTSW	6	148,760,176 (GRCm39)	missense	possibly damaging	0.94
R0930:Caprin2	UTSW	6	148,785,009 (GRCm39)	splice site	probably null
R1540:Caprin2	UTSW	6	148,777,969 (GRCm39)	missense	probably benign	0.01
R1591:Caprin2	UTSW	6	148,774,606 (GRCm39)	missense	possibly damaging	0.94
R1763:Caprin2	UTSW	6	148,744,619 (GRCm39)	missense	probably damaging	1.00
R1885:Caprin2	UTSW	6	148,779,383 (GRCm39)	splice site	probably null
R2027:Caprin2	UTSW	6	148,779,385 (GRCm39)	missense	probably damaging	0.98
R2867:Caprin2	UTSW	6	148,747,738 (GRCm39)	synonymous	silent
R4856:Caprin2	UTSW	6	148,774,509 (GRCm39)	missense	probably benign	0.19
R5580:Caprin2	UTSW	6	148,760,232 (GRCm39)	missense	possibly damaging	0.79
R5696:Caprin2	UTSW	6	148,779,316 (GRCm39)	missense	possibly damaging	0.49
R5765:Caprin2	UTSW	6	148,744,666 (GRCm39)	missense	probably damaging	1.00
R5778:Caprin2	UTSW	6	148,770,820 (GRCm39)	missense	probably benign
R5961:Caprin2	UTSW	6	148,765,038 (GRCm39)	missense	probably damaging	1.00
R6255:Caprin2	UTSW	6	148,779,390 (GRCm39)	missense	probably benign	0.28
R6440:Caprin2	UTSW	6	148,771,143 (GRCm39)	missense	probably damaging	1.00
R6997:Caprin2	UTSW	6	148,779,474 (GRCm39)	missense	probably damaging	1.00
R7034:Caprin2	UTSW	6	148,749,703 (GRCm39)	missense	possibly damaging	0.64
R7344:Caprin2	UTSW	6	148,774,565 (GRCm39)	missense	probably benign	0.02
R7632:Caprin2	UTSW	6	148,784,954 (GRCm39)	missense	probably damaging	1.00
R7808:Caprin2	UTSW	6	148,744,528 (GRCm39)	missense	probably damaging	1.00
R8075:Caprin2	UTSW	6	148,770,590 (GRCm39)	missense	probably benign	0.03
R8083:Caprin2	UTSW	6	148,744,346 (GRCm39)	nonsense	probably null
R8128:Caprin2	UTSW	6	148,784,940 (GRCm39)	splice site	probably null
R8393:Caprin2	UTSW	6	148,770,650 (GRCm39)	missense	probably benign	0.01
R8839:Caprin2	UTSW	6	148,774,525 (GRCm39)	missense	probably benign	0.00
R9041:Caprin2	UTSW	6	148,771,030 (GRCm39)	missense	probably benign	0.03
R9188:Caprin2	UTSW	6	148,767,422 (GRCm39)	missense	probably benign
R9234:Caprin2	UTSW	6	148,744,337 (GRCm39)	nonsense	probably null
R9587:Caprin2	UTSW	6	148,770,500 (GRCm39)	missense	probably benign
R9605:Caprin2	UTSW	6	148,744,332 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02