Mutagenetix > Incidental Mutation

Incidental Mutation 'R5696:Caprin2'

450663

Institutional Source

Beutler Lab

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 #

R5696 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148743990-148797735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148779316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 164 (Y164N)

Ref Sequence

ENSEMBL: ENSMUSP00000107195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072324] [ENSMUST00000111569] [ENSMUST00000139914]

AlphaFold

Q05A80

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072324
AA Change: Y164N

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072165
Gene: ENSMUSG00000030309
AA Change: Y164N

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: Y164N

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107195
Gene: ENSMUSG00000030309
AA Change: Y164N

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

probably benign
Transcript: ENSMUST00000139914

SMART Domains

Protein: ENSMUSP00000121685
Gene: ENSMUSG00000030309

Domain	Start	End	E-Value	Type
coiled coil region	48	94	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	G	A	7: 139,569,159 (GRCm39)	R186W	probably benign	Het
Afg3l2	A	G	18: 67,540,529 (GRCm39)	I660T	probably damaging	Het
Amtn	T	A	5: 88,532,944 (GRCm39)	Y186*	probably null	Het
Atosa	A	G	9: 74,917,399 (GRCm39)	E666G	probably benign	Het
Atrip	A	G	9: 108,894,569 (GRCm39)	S453P	possibly damaging	Het
Bahcc1	T	C	11: 120,164,813 (GRCm39)	L840P	probably damaging	Het
Capn2	T	C	1: 182,306,165 (GRCm39)	E527G	possibly damaging	Het
Ccnh	T	A	13: 85,344,446 (GRCm39)		probably null	Het
Cdon	G	T	9: 35,403,162 (GRCm39)	V1091F	possibly damaging	Het
Ceacam14	A	G	7: 17,548,267 (GRCm39)	Y119C	probably damaging	Het
Ces2h	A	G	8: 105,745,611 (GRCm39)	K445E	possibly damaging	Het
Cfap46	A	G	7: 139,191,947 (GRCm39)	S2357P	probably damaging	Het
Commd4	A	T	9: 57,063,499 (GRCm39)	S86R	possibly damaging	Het
Cpsf6	A	T	10: 117,196,934 (GRCm39)		probably benign	Het
Dag1	A	T	9: 108,086,646 (GRCm39)	V165E	probably benign	Het
Dmxl1	A	T	18: 50,065,008 (GRCm39)	K2618*	probably null	Het
Dnah17	A	G	11: 117,991,882 (GRCm39)	Y1229H	probably benign	Het
Endov	T	A	11: 119,382,625 (GRCm39)	L24Q	probably damaging	Het
Fap	C	T	2: 62,332,803 (GRCm39)	V717M	probably damaging	Het
Fbxl2	A	G	9: 113,815,546 (GRCm39)	L239P	probably damaging	Het
Fbxl5	A	T	5: 43,916,182 (GRCm39)	V367D	possibly damaging	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Gbp8	C	T	5: 105,166,682 (GRCm39)	V216I	possibly damaging	Het
Gclm	G	A	3: 122,059,936 (GRCm39)	A239T	probably benign	Het
Gm11569	C	T	11: 99,689,556 (GRCm39)		probably benign	Het
Gnas	C	A	2: 174,141,468 (GRCm39)		probably benign	Het
Grb10	T	A	11: 11,883,566 (GRCm39)	N508I	probably benign	Het
Gykl1	T	G	18: 52,827,267 (GRCm39)	I158M	probably benign	Het
Ide	G	A	19: 37,295,420 (GRCm39)	T214M	unknown	Het
Il12rb2	T	A	6: 67,272,262 (GRCm39)	Q341H	possibly damaging	Het
Ints1	T	C	5: 139,740,744 (GRCm39)	E1946G	probably benign	Het
Kdelr3	T	C	15: 79,410,100 (GRCm39)		probably null	Het
Kif1b	A	C	4: 149,358,306 (GRCm39)		probably null	Het
Kri1	A	G	9: 21,191,533 (GRCm39)	I320T	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lin9	T	C	1: 180,486,646 (GRCm39)	S111P	probably benign	Het
Lpcat2b	C	A	5: 107,580,773 (GRCm39)	P34Q	probably damaging	Het
Ltk	T	A	2: 119,590,080 (GRCm39)	T49S	probably benign	Het
Map3k9	A	T	12: 81,780,896 (GRCm39)	H421Q	probably benign	Het
Mapkbp1	T	A	2: 119,852,201 (GRCm39)		probably null	Het
Mcm4	A	G	16: 15,443,434 (GRCm39)	S830P	probably damaging	Het
Nek10	T	A	14: 14,860,736 (GRCm38)		probably null	Het
Nlrp9b	A	T	7: 19,758,417 (GRCm39)	R551S	probably benign	Het
Nol4l	T	C	2: 153,260,026 (GRCm39)	T143A	probably damaging	Het
Or1r1	T	C	11: 73,875,362 (GRCm39)	H24R	possibly damaging	Het
Or51g1	T	A	7: 102,633,748 (GRCm39)	T208S	probably benign	Het
Or6z5	T	C	7: 6,477,742 (GRCm39)		probably null	Het
Or7a39	A	T	10: 78,715,919 (GRCm39)	R304S	probably benign	Het
Pde4dip	G	T	3: 97,616,806 (GRCm39)	A1812D	probably damaging	Het
Plekhb1	C	A	7: 100,305,960 (GRCm39)	G26C	probably damaging	Het
Polr1a	T	A	6: 71,906,410 (GRCm39)	F409I	probably benign	Het
Ptpn13	T	A	5: 103,702,625 (GRCm39)	M1197K	probably benign	Het
Qrich2	T	C	11: 116,335,828 (GRCm39)	I2114V	probably damaging	Het
Rbm27	T	C	18: 42,450,731 (GRCm39)	Y449H	probably damaging	Het
Rp1l1	A	G	14: 64,267,195 (GRCm39)	D927G	probably damaging	Het
Secisbp2	C	A	13: 51,833,857 (GRCm39)	Q666K	probably damaging	Het
Slc45a2	T	C	15: 11,001,219 (GRCm39)	I106T	probably damaging	Het
Slx4	G	T	16: 3,797,831 (GRCm39)	Q1518K	probably damaging	Het
Smim10l1	T	C	6: 133,082,489 (GRCm39)	F12S	probably damaging	Het
Son	T	C	16: 91,468,301 (GRCm39)	V306A	possibly damaging	Het
Stab1	A	G	14: 30,882,178 (GRCm39)	S506P	probably benign	Het
Syne2	A	C	12: 76,040,919 (GRCm39)	D3859A	probably benign	Het
Tab1	T	A	15: 80,032,930 (GRCm39)	Y71*	probably null	Het
Tarbp1	A	C	8: 127,174,079 (GRCm39)	M909R	probably damaging	Het
Tex15	T	G	8: 34,063,220 (GRCm39)	S1157R	probably benign	Het
Tnni3	G	A	7: 4,523,453 (GRCm39)	T120I	probably benign	Het
Ttn	T	C	2: 76,747,888 (GRCm39)	E4387G	probably benign	Het
Ugt3a1	G	A	15: 9,361,534 (GRCm39)		silent	Het
Unc5d	T	C	8: 29,156,870 (GRCm39)	I783V	probably benign	Het
Usp40	T	C	1: 87,923,474 (GRCm39)	T266A	probably benign	Het
Vmn2r59	C	T	7: 41,695,468 (GRCm39)	V315I	probably benign	Het
Zbtb48	G	T	4: 152,105,067 (GRCm39)	H532N	probably damaging	Het
Zfp1005	C	T	2: 150,111,394 (GRCm39)	H695Y	possibly 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
IGL03117:Caprin2	APN	6	148,763,964 (GRCm39)	missense	possibly damaging	0.91
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
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

Predicted Primers

PCR Primer
(F):5'- TTCTGAGTGATCTAACAAACACACC -3'
(R):5'- CTAATCCCAGCTATTTGTGGTTG -3'

Sequencing Primer
(F):5'- TGATCTAACAAACACACCAAAATTTC -3'
(R):5'- GAACCTGTATTTGTTTTAACAGCTGC -3'

Posted On

2017-01-03