Mutagenetix > Incidental Mutations

Incidental Mutation 'R1657:Caprin1'

186442

Institutional Source

Beutler Lab

Gene Symbol

Caprin1

Ensembl Gene

ENSMUSG00000027184

Gene Name

cell cycle associated protein 1

Synonyms

caprin-1, RNG105, MMGPIP137, Gpiap1

MMRRC Submission

039693-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.754) question?

Stock #

R1657 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103762941-103797649 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103769506 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 608 (V608E)

Ref Sequence

ENSEMBL: ENSMUSP00000106777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028607] [ENSMUST00000111147] [ENSMUST00000145606]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028607
AA Change: V608E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: V608E

Domain	Start	End	E-Value	Type
low complexity region	2	43	N/A	INTRINSIC
coiled coil region	52	93	N/A	INTRINSIC
low complexity region	176	186	N/A	INTRINSIC
low complexity region	271	280	N/A	INTRINSIC
low complexity region	309	322	N/A	INTRINSIC
low complexity region	326	335	N/A	INTRINSIC
Pfam:Caprin-1_C	365	681	1.4e-173	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111147
AA Change: V608E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: V608E

Domain	Start	End	E-Value	Type
low complexity region	2	43	N/A	INTRINSIC
coiled coil region	52	93	N/A	INTRINSIC
low complexity region	176	186	N/A	INTRINSIC
low complexity region	271	280	N/A	INTRINSIC
low complexity region	309	322	N/A	INTRINSIC
low complexity region	326	335	N/A	INTRINSIC
Pfam:Caprin-1_C	365	680	2.4e-135	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137572

Predicted Effect

probably benign
Transcript: ENSMUST00000143188

SMART Domains

Protein: ENSMUSP00000114423
Gene: ENSMUSG00000027184

Domain	Start	End	E-Value	Type
low complexity region	84	93	N/A	INTRINSIC
low complexity region	122	135	N/A	INTRINSIC
low complexity region	139	148	N/A	INTRINSIC
Pfam:Caprin-1_C	178	254	4.2e-22	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000143349
AA Change: V129E

SMART Domains

Protein: ENSMUSP00000117733
Gene: ENSMUSG00000027184
AA Change: V129E

Domain	Start	End	E-Value	Type
Pfam:Caprin-1_C	1	202	8.2e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145606

SMART Domains

Protein: ENSMUSP00000119327
Gene: ENSMUSG00000027184

Domain	Start	End	E-Value	Type
Pfam:Caprin-1_C	1	33	2.9e-11	PFAM
Pfam:Caprin-1_C	32	82	1.4e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149175

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased fetal size, bent posture, cyanosis, respiratory failure, and neonatal lethality with impaired neuronal network development and reduced dendritic localization of sodium potassium ATPase subunit isoform mRNAs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,678	Q131R	probably benign	Het
3632451O06Rik	G	C	14: 49,773,560	T230S	probably damaging	Het
Acaca	T	G	11: 84,264,084	D988E	probably benign	Het
Als2	A	G	1: 59,180,601	V1185A	probably damaging	Het
Amdhd2	A	G	17: 24,156,055	V391A	probably damaging	Het
Celsr3	T	A	9: 108,842,952	C2512*	probably null	Het
Cfl1	A	T	19: 5,493,555	R187W	probably damaging	Het
Cgnl1	C	T	9: 71,725,944	V42I	probably damaging	Het
Chd2	A	G	7: 73,480,430	Y826H	probably damaging	Het
Col9a2	C	A	4: 121,040,974	P28T	unknown	Het
Cyp3a44	G	A	5: 145,779,743	P346S	probably damaging	Het
Dact2	A	G	17: 14,197,990	V151A	probably benign	Het
Dhx29	T	C	13: 112,952,843	I716T	probably damaging	Het
Esam	T	C	9: 37,537,621	S342P	probably damaging	Het
Fam189a2	C	A	19: 23,975,635	C437F	probably damaging	Het
Fer1l4	A	G	2: 156,035,598	V1053A	possibly damaging	Het
Grk3	A	G	5: 112,966,982	F124S	probably damaging	Het
H2-DMa	G	A	17: 34,137,399		probably null	Het
Hsd3b5	T	A	3: 98,619,720	I137F	possibly damaging	Het
Itgav	A	T	2: 83,801,779	I902F	probably benign	Het
Itsn1	G	T	16: 91,909,223	C179F	probably damaging	Het
Kcnh8	G	A	17: 52,839,125	R347H	probably damaging	Het
Kif9	T	C	9: 110,489,966	M166T	possibly damaging	Het
Kmt5c	C	T	7: 4,746,454	Q324*	probably null	Het
Lcn9	G	A	2: 25,824,710	E154K	probably benign	Het
Mfge8	A	T	7: 79,141,773	L227Q	probably benign	Het
Mroh2b	A	T	15: 4,931,043	R753*	probably null	Het
Mtif2	G	A	11: 29,540,721	R475Q	probably benign	Het
Nln	C	T	13: 104,036,947	V584I	possibly damaging	Het
Nr2e3	T	C	9: 59,948,767	E129G	probably benign	Het
Ocstamp	T	C	2: 165,397,516	D250G	probably damaging	Het
Olfr1065	A	C	2: 86,445,218	L255V	probably damaging	Het
Olfr403	A	T	11: 74,195,896	H131L	probably damaging	Het
Olfr503	T	C	7: 108,545,377	I284T	possibly damaging	Het
Pld1	A	T	3: 28,071,187	I417L	probably benign	Het
Polr1a	A	T	6: 71,941,535	K692N	probably damaging	Het
Qsox2	A	T	2: 26,220,747	Y152*	probably null	Het
Rpap1	T	C	2: 119,783,778	D46G	possibly damaging	Het
Rpe65	A	G	3: 159,614,448	T246A	probably damaging	Het
Scn5a	T	C	9: 119,562,380	D82G	probably damaging	Het
Sema3d	A	G	5: 12,584,974	E669G	possibly damaging	Het
Serpinb6c	T	C	13: 33,880,226	N282S	probably benign	Het
Snap47	A	T	11: 59,428,770	S181T	probably benign	Het
Snx9	A	C	17: 5,918,436	T336P	possibly damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Terb1	A	T	8: 104,488,491	D284E	possibly damaging	Het
Tmem266	C	T	9: 55,418,008	A153V	probably damaging	Het
Ttn	T	C	2: 76,742,804	E25915G	possibly damaging	Het
Tubal3	A	G	13: 3,933,011	T264A	possibly damaging	Het
Vldlr	G	A	19: 27,245,670	R747Q	probably benign	Het
Zc3h8	G	T	2: 128,929,957		probably benign	Het
Zfp184	C	T	13: 21,959,273	T383M	probably damaging	Het
Zfp455	T	C	13: 67,198,639	F38S	possibly damaging	Het
Zfp746	A	G	6: 48,082,174	V167A	possibly damaging	Het
Zfp985	T	A	4: 147,584,110	N478K	probably benign	Het

Other mutations in Caprin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Caprin1	APN	2	103775456	missense	probably benign	0.00
IGL01369:Caprin1	APN	2	103768865	missense	probably damaging	0.99
IGL02054:Caprin1	APN	2	103771798	splice site	probably null
IGL02260:Caprin1	APN	2	103779369	missense	probably damaging	1.00
IGL02526:Caprin1	APN	2	103775603	unclassified	probably benign
IGL03405:Caprin1	APN	2	103779505	missense	probably damaging	1.00
R0027:Caprin1	UTSW	2	103775580	unclassified	probably benign
R0396:Caprin1	UTSW	2	103769569	missense	probably damaging	0.99
R0603:Caprin1	UTSW	2	103796801	missense	probably benign	0.01
R1406:Caprin1	UTSW	2	103775987	missense	probably benign	0.39
R1406:Caprin1	UTSW	2	103775987	missense	probably benign	0.39
R1558:Caprin1	UTSW	2	103775987	missense	possibly damaging	0.75
R2945:Caprin1	UTSW	2	103772809	missense	probably benign	0.04
R3946:Caprin1	UTSW	2	103796766	missense	probably damaging	0.99
R5208:Caprin1	UTSW	2	103769433	critical splice donor site	probably null
R6108:Caprin1	UTSW	2	103776017	missense	possibly damaging	0.93
R6603:Caprin1	UTSW	2	103775511	missense	probably benign	0.01
R7247:Caprin1	UTSW	2	103779474	missense	possibly damaging	0.63
R7338:Caprin1	UTSW	2	103779423	missense	probably benign	0.01
R7624:Caprin1	UTSW	2	103772677	missense	possibly damaging	0.81
R7749:Caprin1	UTSW	2	103771754	missense	probably benign	0.03
R7946:Caprin1	UTSW	2	103772748	missense	probably damaging	0.99
R8304:Caprin1	UTSW	2	103769517	missense	probably damaging	1.00
R8324:Caprin1	UTSW	2	103783181	nonsense	probably null
R8547:Caprin1	UTSW	2	103769517	missense	probably damaging	1.00
R8549:Caprin1	UTSW	2	103769517	missense	probably damaging	1.00
Z1177:Caprin1	UTSW	2	103775934	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TGACATGCATTCAGCACACACGTAA -3'
(R):5'- GGTCTTAATTCTGGGTCGGAAGGCA -3'

Sequencing Primer
(F):5'- TGCAGAGAAGTAATTCGTTCCC -3'
(R):5'- ccagcattcaggaggcag -3'

Posted On

2014-05-09