Mutagenetix > Incidental Mutation

Incidental Mutation 'R5110:Car15'

393824

Institutional Source

Beutler Lab

Gene Symbol

Car15

Ensembl Gene

ENSMUSG00000090236

Gene Name

carbonic anhydrase 15

Synonyms

Cals2

MMRRC Submission

042698-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R5110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17653140-17656050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17653211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 319 (R319G)

Ref Sequence

ENSEMBL: ENSMUSP00000113400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118960] [ENSMUST00000150068]

AlphaFold

Q99N23

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118960
AA Change: R319G

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113400
Gene: ENSMUSG00000090236
AA Change: R319G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Carb_anhydrase	25	293	2.31e-106	SMART
low complexity region	307	320	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135229

Predicted Effect

probably benign
Transcript: ENSMUST00000150068

SMART Domains

Protein: ENSMUSP00000115071
Gene: ENSMUSG00000092470

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	114	265	1.06e-14	SMART
VWC	270	331	1.42e-9	SMART
transmembrane domain	345	367	N/A	INTRINSIC
low complexity region	369	377	N/A	INTRINSIC
low complexity region	438	449	N/A	INTRINSIC
low complexity region	559	565	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232529

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	C	A	9: 124,057,987 (GRCm39)		probably null	Het
2310016G11Rik	G	A	7: 44,327,286 (GRCm39)		noncoding transcript	Het
Abi2	G	A	1: 60,489,280 (GRCm39)	V98I	probably benign	Het
Adam21	T	C	12: 81,606,989 (GRCm39)	T258A	probably benign	Het
Adam33	A	T	2: 130,895,690 (GRCm39)	C542S	probably damaging	Het
Adamts15	A	G	9: 30,832,740 (GRCm39)	V265A	probably benign	Het
Ahnak	A	T	19: 8,992,123 (GRCm39)	D4469V	probably damaging	Het
Aicda	A	G	6: 122,538,144 (GRCm39)	N101D	probably benign	Het
Als2	A	T	1: 59,224,600 (GRCm39)	D1040E	probably damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Col1a1	T	C	11: 94,832,419 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,378,374 (GRCm39)	*594W	probably null	Het
Cwf19l2	A	G	9: 3,450,012 (GRCm39)		probably null	Het
Dctn4	C	T	18: 60,679,387 (GRCm39)	P236S	probably damaging	Het
Dennd2b	A	G	7: 109,141,697 (GRCm39)	S556P	probably benign	Het
Ehmt1	C	A	2: 24,742,802 (GRCm39)	C459F	probably benign	Het
Enox1	T	C	14: 77,945,127 (GRCm39)		probably null	Het
Fam136b-ps	A	G	15: 31,276,856 (GRCm39)		probably benign	Het
Fzd1	T	C	5: 4,806,448 (GRCm39)	D378G	probably benign	Het
Golga5	G	A	12: 102,438,336 (GRCm39)	R17Q	probably benign	Het
Hk1	A	T	10: 62,122,430 (GRCm39)	Y422N	probably damaging	Het
Hsf4	A	G	8: 105,999,427 (GRCm39)	D255G	probably benign	Het
Ift81	A	G	5: 122,689,121 (GRCm39)	V665A	probably benign	Het
Igkv13-84	T	C	6: 68,916,592 (GRCm39)	F3L	probably benign	Het
Kcnh1	T	A	1: 192,020,055 (GRCm39)	S433R	possibly damaging	Het
Ktn1	A	G	14: 47,941,744 (GRCm39)		probably benign	Het
Lrp4	A	T	2: 91,327,417 (GRCm39)	D1471V	possibly damaging	Het
Macf1	A	T	4: 123,261,801 (GRCm39)	D6990E	probably damaging	Het
Map3k6	G	A	4: 132,974,859 (GRCm39)		probably benign	Het
Miox	T	A	15: 89,219,759 (GRCm39)	D82E	probably benign	Het
Or4n5	T	G	14: 50,133,032 (GRCm39)	I76L	possibly damaging	Het
Ovgp1	G	C	3: 105,885,099 (GRCm39)	R133P	probably damaging	Het
Per2	G	A	1: 91,357,237 (GRCm39)	T642I	possibly damaging	Het
Pparg	T	C	6: 115,449,964 (GRCm39)	V321A	probably damaging	Het
Pptc7	T	A	5: 122,446,312 (GRCm39)	N17K	probably benign	Het
Prpf19	T	C	19: 10,876,651 (GRCm39)		probably benign	Het
Rai14	T	C	15: 10,690,496 (GRCm39)		probably benign	Het
Sardh	T	C	2: 27,079,559 (GRCm39)	D911G	probably benign	Het
Sbf2	T	A	7: 109,963,864 (GRCm39)	T994S	probably benign	Het
Slc1a1	G	A	19: 28,889,208 (GRCm39)	E494K	probably benign	Het
Smarcc1	A	G	9: 110,026,852 (GRCm39)	K771E	possibly damaging	Het
Stim1	T	C	7: 101,917,629 (GRCm39)	V3A	unknown	Het
Syne3	G	A	12: 104,909,629 (GRCm39)	R736C	probably benign	Het
Synj2	T	C	17: 6,087,990 (GRCm39)	V986A	probably benign	Het
Tinag	A	G	9: 76,859,289 (GRCm39)	S440P	probably damaging	Het
Tshz2	A	G	2: 169,726,117 (GRCm39)	T238A	possibly damaging	Het
Ttc8	T	C	12: 98,908,562 (GRCm39)	M17T	probably benign	Het
Tubgcp5	G	A	7: 55,458,385 (GRCm39)	R432Q	probably damaging	Het
Ugt1a10	T	A	1: 87,983,974 (GRCm39)		probably null	Het
Usp4	T	A	9: 108,239,877 (GRCm39)	I202N	probably damaging	Het
Vmn1r194	T	G	13: 22,429,170 (GRCm39)	S262R	probably benign	Het
Vmn2r101	T	C	17: 19,831,897 (GRCm39)	F631S	possibly damaging	Het
Vps13b	T	A	15: 35,770,955 (GRCm39)	S2133T	probably damaging	Het
Zfp13	C	A	17: 23,799,834 (GRCm39)	V77F	probably benign	Het
Zscan10	T	A	17: 23,828,606 (GRCm39)	C306S	probably damaging	Het

Other mutations in Car15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00822:Car15	APN	16	17,654,498 (GRCm39)	missense	probably damaging	1.00
IGL01292:Car15	APN	16	17,653,393 (GRCm39)	missense	probably damaging	1.00
IGL01361:Car15	APN	16	17,655,718 (GRCm39)	missense	probably damaging	1.00
IGL03061:Car15	APN	16	17,653,249 (GRCm39)	missense	possibly damaging	0.59
R0383:Car15	UTSW	16	17,654,617 (GRCm39)	nonsense	probably null
R0544:Car15	UTSW	16	17,653,680 (GRCm39)	splice site	probably benign
R1771:Car15	UTSW	16	17,654,730 (GRCm39)	missense	probably damaging	0.97
R1951:Car15	UTSW	16	17,655,269 (GRCm39)	missense	possibly damaging	0.47
R2318:Car15	UTSW	16	17,654,463 (GRCm39)	missense	probably benign	0.02
R2910:Car15	UTSW	16	17,656,006 (GRCm39)	unclassified	probably benign
R4370:Car15	UTSW	16	17,653,299 (GRCm39)	missense	probably damaging	0.99
R4843:Car15	UTSW	16	17,654,472 (GRCm39)	missense	possibly damaging	0.60
R6251:Car15	UTSW	16	17,655,227 (GRCm39)	missense	probably benign	0.09
R6360:Car15	UTSW	16	17,655,930 (GRCm39)	missense	probably benign	0.01
R6699:Car15	UTSW	16	17,654,438 (GRCm39)	missense	probably null	0.43
R7127:Car15	UTSW	16	17,656,060 (GRCm39)	unclassified	probably benign
R7567:Car15	UTSW	16	17,654,652 (GRCm39)	missense	probably damaging	1.00
R8289:Car15	UTSW	16	17,654,580 (GRCm39)	critical splice donor site	probably null
R8543:Car15	UTSW	16	17,654,713 (GRCm39)	missense	probably benign	0.00
R9252:Car15	UTSW	16	17,653,246 (GRCm39)	nonsense	probably null
X0026:Car15	UTSW	16	17,653,396 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGGACAAGAGGACAGTCACC -3'
(R):5'- TCAGGTAGTCCAGTTCCAGG -3'

Sequencing Primer
(F):5'- CAAGAGCCTCTCAGTTCTGTGG -3'
(R):5'- TAGTCCAGTTCCAGGCCGTG -3'

Posted On

2016-06-15