Mutagenetix > Incidental Mutation

Incidental Mutation 'R8543:Car15'

659489

Institutional Source

Beutler Lab

Gene Symbol

Car15

Ensembl Gene

ENSMUSG00000090236

Gene Name

carbonic anhydrase 15

Synonyms

Cals2

MMRRC Submission

068508-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R8543 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17653140-17656050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17654713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 102 (N102D)

Ref Sequence

ENSEMBL: ENSMUSP00000113400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012152] [ENSMUST00000066127] [ENSMUST00000117082] [ENSMUST00000117945] [ENSMUST00000118960] [ENSMUST00000150068]

AlphaFold

Q99N23

Predicted Effect

probably benign
Transcript: ENSMUST00000012152

SMART Domains

Protein: ENSMUSP00000012152
Gene: ENSMUSG00000003166

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

Predicted Effect

probably benign
Transcript: ENSMUST00000066127

SMART Domains

Protein: ENSMUSP00000064603
Gene: ENSMUSG00000003166

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	111	262	1.06e-14	SMART
transmembrane domain	274	296	N/A	INTRINSIC
low complexity region	298	306	N/A	INTRINSIC
low complexity region	367	378	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117082

SMART Domains

Protein: ENSMUSP00000113506
Gene: ENSMUSG00000003166

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	5.86e-11	SMART
CLECT	113	264	1.06e-14	SMART
VWC	269	330	1.42e-9	SMART
transmembrane domain	344	366	N/A	INTRINSIC
low complexity region	368	376	N/A	INTRINSIC
low complexity region	437	448	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117945

SMART Domains

Protein: ENSMUSP00000112783
Gene: ENSMUSG00000003166

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LDLa	29	68	6.28e-11	SMART
CLECT	111	262	1.06e-14	SMART
VWC	267	328	1.42e-9	SMART
transmembrane domain	342	364	N/A	INTRINSIC
low complexity region	366	374	N/A	INTRINSIC
low complexity region	435	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118960
AA Change: N102D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113400
Gene: ENSMUSG00000090236
AA Change: N102D

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	T	A	17: 43,624,097 (GRCm39)	L839Q	probably null	Het
Ampd1	T	A	3: 102,986,486 (GRCm39)	F55Y	possibly damaging	Het
Ank3	A	G	10: 69,838,266 (GRCm39)	E891G	probably damaging	Het
Ankrd13c	A	G	3: 157,709,712 (GRCm39)		probably null	Het
Ankrd63	A	G	2: 118,533,604 (GRCm39)		probably benign	Het
Arhgap30	T	C	1: 171,232,530 (GRCm39)	S392P	probably damaging	Het
Arhgef11	A	T	3: 87,589,181 (GRCm39)	K16M	probably damaging	Het
Birc6	T	C	17: 74,872,860 (GRCm39)	V373A	probably damaging	Het
Blm	A	G	7: 80,143,964 (GRCm39)	M822T	probably damaging	Het
Cdk14	A	T	5: 5,430,079 (GRCm39)	M16K	probably benign	Het
Cep350	A	G	1: 155,738,122 (GRCm39)	Y2574H	probably damaging	Het
Coro1a	C	A	7: 126,301,188 (GRCm39)	C104F	probably damaging	Het
D130043K22Rik	T	A	13: 25,073,852 (GRCm39)	L977Q	probably benign	Het
Dcaf1	T	G	9: 106,735,277 (GRCm39)	S742A	probably benign	Het
Dnajb11	A	T	16: 22,681,335 (GRCm39)	I38L	probably benign	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fat4	A	C	3: 39,031,643 (GRCm39)	H2476P	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gm14326	G	A	2: 177,587,452 (GRCm39)	R515W	probably damaging	Het
Gm49368	T	C	7: 127,679,433 (GRCm39)	Y192H	probably damaging	Het
Gm7579	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG	7: 141,765,782 (GRCm39)		probably benign	Het
Gpr182	T	C	10: 127,586,861 (GRCm39)	H30R	probably benign	Het
Gprc5c	T	A	11: 114,755,094 (GRCm39)	V257E	probably damaging	Het
Iars2	T	C	1: 185,019,341 (GRCm39)	T982A	probably benign	Het
Ighg2b	C	A	12: 113,270,552 (GRCm39)	A193S	probably damaging	Het
Izumo1	T	A	7: 45,275,678 (GRCm39)	V329E	possibly damaging	Het
Kcnj6	A	T	16: 94,563,250 (GRCm39)	V398E	possibly damaging	Het
Lef1	T	A	3: 130,909,138 (GRCm39)	N117K	possibly damaging	Het
Ltbp4	T	C	7: 27,024,666 (GRCm39)	S655G	possibly damaging	Het
Magi3	A	T	3: 104,126,984 (GRCm39)	I100N	probably damaging	Het
Mettl17	G	A	14: 52,126,257 (GRCm39)	A222T	probably benign	Het
Notch4	A	G	17: 34,787,394 (GRCm39)	E318G	probably damaging	Het
Nqo2	A	T	13: 34,169,297 (GRCm39)		probably null	Het
Or8k31-ps1	A	T	2: 86,356,386 (GRCm39)	M45K	probably damaging	Het
Ptpn18	T	C	1: 34,511,229 (GRCm39)	S324P	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rin1	A	G	19: 5,102,100 (GRCm39)	D203G	probably damaging	Het
Serpinb9c	T	A	13: 33,340,417 (GRCm39)	E128V	probably damaging	Het
Slc3a1	C	A	17: 85,335,925 (GRCm39)	N22K	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tmco4	G	T	4: 138,781,251 (GRCm39)	V472L	probably benign	Het
Tmem132d	T	C	5: 128,345,799 (GRCm39)	E241G	probably benign	Het
Trim17	T	A	11: 58,862,281 (GRCm39)	S438T	probably damaging	Het
Trmt44	T	C	5: 35,732,374 (GRCm39)	R6G	probably benign	Het
Vcl	G	T	14: 21,045,127 (GRCm39)	L277F	probably benign	Het
Vmn2r68	C	T	7: 84,883,648 (GRCm39)	M152I	probably benign	Het
Vmn2r94	C	T	17: 18,463,984 (GRCm39)	V769I	possibly damaging	Het
Vps13d	G	T	4: 144,743,353 (GRCm39)	S3027*	probably null	Het
Zfp282	A	G	6: 47,881,561 (GRCm39)	Q416R	probably benign	Het
Zfp668	A	G	7: 127,466,392 (GRCm39)	L264P	probably damaging	Het
Zfp747	A	G	7: 126,973,655 (GRCm39)	Y172H	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
R5110:Car15	UTSW	16	17,653,211 (GRCm39)	missense	possibly damaging	0.53
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
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'- CATGTGGACCATGTGCATCTAG -3'
(R):5'- GGACAGTCAGTTCATGTCCAG -3'

Sequencing Primer
(F):5'- CCATGTGCATCTAGGGGATAC -3'
(R):5'- GTCAGTTCATGTCCAGATGCCAAG -3'

Posted On

2021-01-18