Mutagenetix > Incidental Mutation

Incidental Mutation 'R8324:Caprin1'

643966

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.431) question?

Stock #

R8324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103762941-103797649 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 103783181 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 79 (R79*)

Ref Sequence

ENSEMBL: ENSMUSP00000028607 (fasta)

Gene Model

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

AlphaFold

Q60865

Predicted Effect

probably null
Transcript: ENSMUST00000028607
AA Change: R79*

SMART Domains

Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: R79*

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 null
Transcript: ENSMUST00000111147
AA Change: R79*

SMART Domains

Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: R79*

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,290,395	S753P	probably damaging	Het
Acan	A	G	7: 79,091,056	E390G	probably damaging	Het
Antxr2	T	C	5: 97,938,509	N413S	probably damaging	Het
Bace2	C	T	16: 97,356,908	A36V	possibly damaging	Het
Cdan1	A	G	2: 120,727,325	V507A	probably benign	Het
Cdkl3	T	A	11: 52,022,879		probably null	Het
Chst5	A	T	8: 111,890,508	L160Q	probably benign	Het
Col11a1	C	G	3: 114,164,410	P1111R	probably damaging	Het
Col6a6	T	A	9: 105,755,654	E1470D	probably benign	Het
Cpped1	T	A	16: 11,805,476	T274S	probably benign	Het
Ctnnbl1	G	A	2: 157,779,815	E75K	probably damaging	Het
Cyp4f40	T	C	17: 32,659,528	S15P	probably benign	Het
Ddx46	T	C	13: 55,663,914	S643P	probably damaging	Het
Defb34	A	G	8: 19,123,798	Q16R	probably null	Het
Dhrs2	T	A	14: 55,238,764	V147E	probably damaging	Het
Dnah5	G	T	15: 28,346,865	R2498L	probably damaging	Het
Dpp10	T	A	1: 123,854,172	I93F	probably benign	Het
Eef1e1	T	A	13: 38,655,069	D104V	probably damaging	Het
Egfr	A	G	11: 16,858,971	Y55C	probably damaging	Het
Egfr	A	C	11: 16,908,885	I955L	probably damaging	Het
Ehbp1l1	C	A	19: 5,719,998	V426F	possibly damaging	Het
Fam234a	C	T	17: 26,218,698	V108I	probably benign	Het
Fzd8	T	A	18: 9,214,688	M590K	probably damaging	Het
Gm13287	T	C	4: 88,803,638	S129P	probably damaging	Het
Heatr5b	A	G	17: 78,755,364	S1919P	possibly damaging	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Ikbkap	C	T	4: 56,772,491	E877K	probably damaging	Het
Itpr2	T	C	6: 146,328,398	E1233G	probably damaging	Het
Kcnmb4	A	G	10: 116,418,314	L186P	probably damaging	Het
Krt72	T	A	15: 101,782,145	Y224F	probably damaging	Het
Loxhd1	T	C	18: 77,339,579		probably null	Het
Lrguk	A	G	6: 34,102,571	T914A	probably benign	Het
Lrrtm4	A	G	6: 80,021,991	T129A	probably damaging	Het
Mmp13	A	T	9: 7,276,636	I244F	possibly damaging	Het
Mob1a	T	A	6: 83,329,974	L41Q	probably damaging	Het
Mtcl1	T	C	17: 66,436,217	R426G	probably damaging	Het
Mybbp1a	T	C	11: 72,445,288		probably null	Het
Myh9	A	G	15: 77,788,917		probably null	Het
Myo1d	T	A	11: 80,557,521	D926V	probably damaging	Het
Ncapg	T	G	5: 45,695,668	H825Q	probably damaging	Het
Olfml1	T	C	7: 107,590,363	S212P	probably benign	Het
Olfr656	G	A	7: 104,618,114	R145H	probably benign	Het
Pak2	T	C	16: 32,052,211	N51S	probably benign	Het
Papln	T	C	12: 83,786,619	Y1132H	probably damaging	Het
Pax3	T	A	1: 78,193,789	R134S	probably damaging	Het
Pdzrn4	A	G	15: 92,770,937	E990G	probably damaging	Het
Peak1	A	T	9: 56,207,476	W1394R	probably damaging	Het
Pkn2	T	C	3: 142,829,010	N285D	probably benign	Het
Pramef12	A	C	4: 144,395,857	L39R	probably damaging	Het
Prrc2a	A	G	17: 35,156,984	S897P	possibly damaging	Het
Rad51	A	G	2: 119,123,831	T131A	possibly damaging	Het
Rc3h2	T	A	2: 37,400,726	T255S	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rictor	T	A	15: 6,745,562	V125E	probably damaging	Het
Rps6ka5	C	T	12: 100,558,487	D664N	possibly damaging	Het
Rreb1	T	A	13: 37,947,621	W1584R	probably damaging	Het
Rxra	T	C	2: 27,741,183	I142T	probably damaging	Het
Sall2	T	C	14: 52,312,886	T951A	probably benign	Het
Slc15a2	T	G	16: 36,759,307	N359T	probably damaging	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc6a13	T	C	6: 121,337,414	*603Q	probably null	Het
Sptb	T	C	12: 76,619,162	D894G	possibly damaging	Het
Srgn	A	G	10: 62,507,665	L17P	probably damaging	Het
Tmprss9	T	C	10: 80,897,371		probably null	Het
Trav9n-4	T	C	14: 53,294,946	F86L	probably benign	Het
Trp63	A	G	16: 25,876,734	Y482C	unknown	Het
Ttc9b	G	T	7: 27,653,969	A15S	probably damaging	Het
Urb1	A	T	16: 90,791,190	I410N	probably damaging	Het
Vmn2r82	A	T	10: 79,378,893	K237*	probably null	Het
Wwox	G	A	8: 114,489,005		probably null	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
R1657:Caprin1	UTSW	2	103769506	missense	probably damaging	0.99
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
R8547:Caprin1	UTSW	2	103769517	missense	probably damaging	1.00
R8549:Caprin1	UTSW	2	103769517	missense	probably damaging	1.00
R8782:Caprin1	UTSW	2	103772788	missense	probably benign	0.06
R8946:Caprin1	UTSW	2	103778033	missense	probably damaging	1.00
R9332:Caprin1	UTSW	2	103773045	missense	probably benign	0.00
R9758:Caprin1	UTSW	2	103775938	missense	possibly damaging	0.70
Z1177:Caprin1	UTSW	2	103775934	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCATGAAACTCCTCTGTAATTC -3'
(R):5'- CAGCAATGGTCAGTGTTTCAAG -3'

Sequencing Primer
(F):5'- ACTCCAAATTATTTGTGACTTCCTGG -3'
(R):5'- GCAATGGTCAGTGTTTCAAGTTTAC -3'

Posted On

2020-09-02