Mutagenetix > Incidental Mutation

Incidental Mutation 'R7624:Caprin1'

589303

Institutional Source

Beutler Lab

Gene Symbol

Caprin1

Ensembl Gene

ENSMUSG00000027184

Gene Name

cell cycle associated protein 1

Synonyms

caprin-1, RNG105, Gpiap1, MMGPIP137

MMRRC Submission

045689-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

R7624 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103593292-103627946 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103603022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 514 (M514L)

Ref Sequence

ENSEMBL: ENSMUSP00000028607 (fasta)

Gene Model

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

AlphaFold

Q60865

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028607
AA Change: M514L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: M514L

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

possibly damaging
Transcript: ENSMUST00000111147
AA Change: M514L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: M514L

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117733
Gene: ENSMUSG00000027184
AA Change: M35L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	C	A	9: 53,366,068 (GRCm39)	R2533L	probably damaging	Het
Ccdc78	A	G	17: 26,006,126 (GRCm39)	E98G	probably damaging	Het
Cmya5	A	T	13: 93,226,865 (GRCm39)	M2741K	possibly damaging	Het
Cnot1	T	G	8: 96,478,447 (GRCm39)	R959S	probably damaging	Het
Col12a1	G	T	9: 79,553,076 (GRCm39)		probably null	Het
Col4a3	A	G	1: 82,696,605 (GRCm39)	T177A	probably benign	Het
Cpa3	T	C	3: 20,279,307 (GRCm39)	N211D	possibly damaging	Het
Cripto	C	T	9: 110,775,017 (GRCm39)		probably benign	Het
Cryba1	T	C	11: 77,613,543 (GRCm39)	Y36C	probably damaging	Het
Ctnna1	T	A	18: 35,377,897 (GRCm39)	I632N	probably benign	Het
D630045J12Rik	T	C	6: 38,126,498 (GRCm39)	N1504S	probably damaging	Het
Dgkz	C	A	2: 91,773,019 (GRCm39)	R346L	probably damaging	Het
Dnajc21	G	A	15: 10,461,318 (GRCm39)	R211C	probably benign	Het
Dnajc21	A	T	15: 10,461,320 (GRCm39)	I210N	probably damaging	Het
Dscam	T	C	16: 96,411,524 (GRCm39)	D1784G	probably damaging	Het
Eya3	A	G	4: 132,400,262 (GRCm39)	T94A	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat3	T	C	9: 15,871,165 (GRCm39)	D3742G	possibly damaging	Het
Ficd	T	C	5: 113,876,751 (GRCm39)	F309L	probably benign	Het
Gfra1	A	T	19: 58,226,878 (GRCm39)	M451K	probably benign	Het
Gm43517	T	A	12: 49,437,961 (GRCm39)	L318Q		Het
Gsc	A	T	12: 104,439,310 (GRCm39)	V22E	possibly damaging	Het
Il4ra	T	C	7: 125,168,280 (GRCm39)	Y100H	probably damaging	Het
Ilf3	T	C	9: 21,309,340 (GRCm39)	S486P	probably benign	Het
Itga10	T	A	3: 96,560,269 (GRCm39)	H594Q	probably benign	Het
Kcnf1	T	C	12: 17,226,137 (GRCm39)	D28G	probably benign	Het
Kiss1	A	G	1: 133,257,160 (GRCm39)	K53R	possibly damaging	Het
Lcn5	A	G	2: 25,551,426 (GRCm39)	I182V	probably benign	Het
Lcorl	T	C	5: 45,859,307 (GRCm39)	D269G	probably benign	Het
Letm2	A	T	8: 26,082,553 (GRCm39)	C174*	probably null	Het
Met	T	G	6: 17,558,834 (GRCm39)	V1154G	probably damaging	Het
Mindy3	A	G	2: 12,424,000 (GRCm39)	S22P	probably benign	Het
Mroh2b	G	A	15: 4,946,613 (GRCm39)	R471Q	probably damaging	Het
Nfe2l3	T	C	6: 51,435,252 (GRCm39)	L604P	probably damaging	Het
Or12e10	A	G	2: 87,640,683 (GRCm39)	Q173R	probably damaging	Het
Or14a256	A	G	7: 86,265,769 (GRCm39)	F28S	possibly damaging	Het
Or5h18	T	A	16: 58,847,382 (GRCm39)	Q296L	possibly damaging	Het
Or8b3b	C	T	9: 38,583,919 (GRCm39)	V274I	probably benign	Het
Or8u9	A	T	2: 86,001,564 (GRCm39)	I199N	possibly damaging	Het
Or9r7	A	C	10: 129,962,455 (GRCm39)	I157S	probably damaging	Het
Pcdha9	T	A	18: 37,132,849 (GRCm39)	Y639*	probably null	Het
Pom121l2	A	T	13: 22,167,699 (GRCm39)	I657L	probably damaging	Het
Prr14l	T	A	5: 32,986,967 (GRCm39)	T843S	possibly damaging	Het
Rln1	A	T	19: 29,309,499 (GRCm39)	N93K	probably damaging	Het
Rpl3l	A	T	17: 24,951,401 (GRCm39)	M101L	probably benign	Het
Rtkn	A	G	6: 83,129,158 (GRCm39)	Y551C	probably benign	Het
Rundc1	G	C	11: 101,324,305 (GRCm39)	R337P	possibly damaging	Het
Scarf1	T	A	11: 75,405,242 (GRCm39)		probably null	Het
Serpinb1b	T	A	13: 33,275,622 (GRCm39)		probably null	Het
Sgsm1	A	T	5: 113,422,201 (GRCm39)	C484*	probably null	Het
Slc22a19	T	A	19: 7,650,668 (GRCm39)	K547*	probably null	Het
Slc22a19	T	C	19: 7,671,183 (GRCm39)	T177A	probably benign	Het
Slc6a5	A	C	7: 49,591,614 (GRCm39)	K526N	probably benign	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Stard9	T	C	2: 120,518,627 (GRCm39)	I517T	probably benign	Het
Taf15	A	T	11: 83,395,849 (GRCm39)	D518V	unknown	Het
Tenm4	A	G	7: 96,545,192 (GRCm39)	M2440V	possibly damaging	Het
Tm6sf1	A	G	7: 81,518,458 (GRCm39)	M122V	possibly damaging	Het
Tmprss9	T	A	10: 80,728,053 (GRCm39)	S548T	possibly damaging	Het
Trim62	A	T	4: 128,777,471 (GRCm39)		probably benign	Het
Ugt2b34	C	T	5: 87,039,141 (GRCm39)	V507M	possibly damaging	Het
Usp16	T	A	16: 87,273,693 (GRCm39)	M423K	probably benign	Het
Vmn1r199	T	A	13: 22,566,906 (GRCm39)	S67T	probably benign	Het
Vmn1r62	A	T	7: 5,678,600 (GRCm39)	M94L	probably benign	Het
Wnk4	G	T	11: 101,155,180 (GRCm39)	E364*	probably null	Het
Xpo1	T	A	11: 23,232,584 (GRCm39)	I368N	probably damaging	Het
Zfp366	A	G	13: 99,382,804 (GRCm39)	T656A	probably benign	Het
Zfp934	T	C	13: 62,666,338 (GRCm39)	M113V	probably benign	Het
Zkscan2	A	G	7: 123,097,994 (GRCm39)	V134A	probably damaging	Het

Other mutations in Caprin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Caprin1	APN	2	103,605,801 (GRCm39)	missense	probably benign	0.00
IGL01369:Caprin1	APN	2	103,599,210 (GRCm39)	missense	probably damaging	0.99
IGL02054:Caprin1	APN	2	103,602,143 (GRCm39)	splice site	probably null
IGL02260:Caprin1	APN	2	103,609,714 (GRCm39)	missense	probably damaging	1.00
IGL02526:Caprin1	APN	2	103,605,948 (GRCm39)	unclassified	probably benign
IGL03405:Caprin1	APN	2	103,609,850 (GRCm39)	missense	probably damaging	1.00
R0027:Caprin1	UTSW	2	103,605,925 (GRCm39)	unclassified	probably benign
R0396:Caprin1	UTSW	2	103,599,914 (GRCm39)	missense	probably damaging	0.99
R0603:Caprin1	UTSW	2	103,627,146 (GRCm39)	missense	probably benign	0.01
R1406:Caprin1	UTSW	2	103,606,332 (GRCm39)	missense	probably benign	0.39
R1406:Caprin1	UTSW	2	103,606,332 (GRCm39)	missense	probably benign	0.39
R1558:Caprin1	UTSW	2	103,606,332 (GRCm39)	missense	possibly damaging	0.75
R1657:Caprin1	UTSW	2	103,599,851 (GRCm39)	missense	probably damaging	0.99
R2945:Caprin1	UTSW	2	103,603,154 (GRCm39)	missense	probably benign	0.04
R3946:Caprin1	UTSW	2	103,627,111 (GRCm39)	missense	probably damaging	0.99
R5208:Caprin1	UTSW	2	103,599,778 (GRCm39)	critical splice donor site	probably null
R6108:Caprin1	UTSW	2	103,606,362 (GRCm39)	missense	possibly damaging	0.93
R6603:Caprin1	UTSW	2	103,605,856 (GRCm39)	missense	probably benign	0.01
R7247:Caprin1	UTSW	2	103,609,819 (GRCm39)	missense	possibly damaging	0.63
R7338:Caprin1	UTSW	2	103,609,768 (GRCm39)	missense	probably benign	0.01
R7749:Caprin1	UTSW	2	103,602,099 (GRCm39)	missense	probably benign	0.03
R7946:Caprin1	UTSW	2	103,603,093 (GRCm39)	missense	probably damaging	0.99
R8304:Caprin1	UTSW	2	103,599,862 (GRCm39)	missense	probably damaging	1.00
R8324:Caprin1	UTSW	2	103,613,526 (GRCm39)	nonsense	probably null
R8547:Caprin1	UTSW	2	103,599,862 (GRCm39)	missense	probably damaging	1.00
R8549:Caprin1	UTSW	2	103,599,862 (GRCm39)	missense	probably damaging	1.00
R8782:Caprin1	UTSW	2	103,603,133 (GRCm39)	missense	probably benign	0.06
R8946:Caprin1	UTSW	2	103,608,378 (GRCm39)	missense	probably damaging	1.00
R9332:Caprin1	UTSW	2	103,603,390 (GRCm39)	missense	probably benign	0.00
R9758:Caprin1	UTSW	2	103,606,283 (GRCm39)	missense	possibly damaging	0.70
Z1177:Caprin1	UTSW	2	103,606,279 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCTTAATCCTTCAGGCATTC -3'
(R):5'- AGAAGTAGCGTACCACTAAAGTAC -3'

Sequencing Primer
(F):5'- TTCCACGTGAGTTCCAAGG -3'
(R):5'- GTAGCGTACCACTAAAGTACATTTG -3'

Posted On

2019-10-24