Mutagenetix > Incidental Mutation

Incidental Mutation 'R7338:Caprin1'

569627

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

045428-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

R7338 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103593292-103627946 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103609768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 170 (L170S)

Ref Sequence

ENSEMBL: ENSMUSP00000028607 (fasta)

Gene Model

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

AlphaFold

Q60865

Predicted Effect

probably benign
Transcript: ENSMUST00000028607
AA Change: L170S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000028607
Gene: ENSMUSG00000027184
AA Change: L170S

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 benign
Transcript: ENSMUST00000111147
AA Change: L170S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000106777
Gene: ENSMUSG00000027184
AA Change: L170S

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,595,717 (GRCm39)	S357P	possibly damaging	Het
Arhgap28	T	C	17: 68,203,106 (GRCm39)	R166G	probably damaging	Het
Bcan	T	A	3: 87,901,550 (GRCm39)	E384V	probably damaging	Het
Bcl9l	A	G	9: 44,420,005 (GRCm39)	N1137S	probably benign	Het
Card6	C	T	15: 5,129,354 (GRCm39)	E681K	probably benign	Het
Catsperb	G	A	12: 101,447,243 (GRCm39)	V248I	probably benign	Het
Ccnj	T	A	19: 40,825,477 (GRCm39)	H62Q	probably damaging	Het
Cd180	A	C	13: 102,842,936 (GRCm39)	I661L	probably benign	Het
Cdk11b	A	G	4: 155,732,008 (GRCm39)	R473G	unknown	Het
Cep126	T	C	9: 8,099,799 (GRCm39)	T912A	possibly damaging	Het
Chek2	T	A	5: 111,021,380 (GRCm39)	V530E	probably benign	Het
Chga	G	T	12: 102,529,100 (GRCm39)	S359I	probably damaging	Het
Cnrip1	T	C	11: 17,004,657 (GRCm39)	V69A	probably damaging	Het
Cyp2a5	A	T	7: 26,542,372 (GRCm39)	Q458L	probably damaging	Het
Cyp2j11	T	A	4: 96,195,524 (GRCm39)	T391S	possibly damaging	Het
Dhx16	T	C	17: 36,199,036 (GRCm39)	L794P	probably damaging	Het
Dscaml1	A	G	9: 45,585,802 (GRCm39)	T580A	probably benign	Het
Elmo1	A	T	13: 20,464,982 (GRCm39)	I184L	probably benign	Het
Gabra1	C	T	11: 42,073,121 (GRCm39)	G51S	unknown	Het
Gabrr3	C	A	16: 59,268,439 (GRCm39)	L351I	possibly damaging	Het
Gbp7	A	T	3: 142,243,786 (GRCm39)	N111I	probably damaging	Het
Gjd2	C	T	2: 113,841,583 (GRCm39)	R298H	probably damaging	Het
Gm5930	T	C	14: 44,573,914 (GRCm39)	Y141C	probably damaging	Het
Grin3a	G	T	4: 49,771,238 (GRCm39)	N511K	probably benign	Het
Hdac7	T	C	15: 97,707,903 (GRCm39)	D122G	probably benign	Het
Ifi204	G	A	1: 173,587,703 (GRCm39)	T152I	possibly damaging	Het
Lrrc9	C	T	12: 72,510,305 (GRCm39)		probably null	Het
Med21	T	A	6: 146,544,082 (GRCm39)		probably benign	Het
Mmp19	A	T	10: 128,634,952 (GRCm39)	T523S	probably benign	Het
Nav3	G	A	10: 109,605,073 (GRCm39)	T1000I	probably benign	Het
Nherf2	T	A	17: 24,869,182 (GRCm39)		probably benign	Het
Nin	T	C	12: 70,090,838 (GRCm39)	D859G		Het
Nip7	T	G	8: 107,783,916 (GRCm39)	L52R	possibly damaging	Het
Or10d1c	A	G	9: 38,893,816 (GRCm39)	Y175H	probably damaging	Het
Or5al5	A	T	2: 85,961,726 (GRCm39)	F94I	probably damaging	Het
Or6b13	A	T	7: 139,782,446 (GRCm39)	V79E	probably benign	Het
Otop1	T	A	5: 38,457,547 (GRCm39)	Y435*	probably null	Het
Pak4	A	G	7: 28,264,381 (GRCm39)	S174P	probably benign	Het
Pcsk7	G	A	9: 45,837,287 (GRCm39)	R537Q	probably benign	Het
Podxl	G	A	6: 31,505,941 (GRCm39)	S34F	unknown	Het
Prr36	G	A	8: 4,266,212 (GRCm39)	R113C	probably damaging	Het
Ptk7	T	C	17: 46,890,525 (GRCm39)	I436V	probably benign	Het
Slc13a5	C	T	11: 72,157,310 (GRCm39)	V28I	probably benign	Het
Slco6d1	A	T	1: 98,349,097 (GRCm39)	D56V	probably benign	Het
Spg11	G	A	2: 121,885,858 (GRCm39)	R2317W	probably damaging	Het
Stom	T	A	2: 35,213,760 (GRCm39)		probably null	Het
Svs5	T	C	2: 164,174,728 (GRCm39)	L8P	possibly damaging	Het
Tmem141	C	A	2: 25,511,626 (GRCm39)	V39F	probably damaging	Het
Tmprss6	A	G	15: 78,344,019 (GRCm39)	L181P	probably damaging	Het
Tnni3	A	G	7: 4,524,379 (GRCm39)	S40P	probably benign	Het
Tubgcp4	A	G	2: 121,024,465 (GRCm39)	I548V	probably benign	Het
Twf2	A	G	9: 106,081,138 (GRCm39)		probably benign	Het
Wnt5b	C	A	6: 119,425,092 (GRCm39)		probably null	Het
Wrap73	A	G	4: 154,237,043 (GRCm39)	D210G	probably benign	Het
Yipf4	T	G	17: 74,796,771 (GRCm39)	S21A	probably benign	Het
Zscan20	A	G	4: 128,481,943 (GRCm39)	M573T	probably benign	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
R7624:Caprin1	UTSW	2	103,603,022 (GRCm39)	missense	possibly damaging	0.81
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'- ACAAGTGAATTGAGGCATGTTC -3'
(R):5'- AAGTTGGACACTGTCTTGGG -3'

Sequencing Primer
(F):5'- GAATTGAGGCATGTTCATACTGCTC -3'
(R):5'- GGGTTTATGTTCTTTGACAGATTCAG -3'

Posted On

2019-09-13