Mutagenetix > Incidental Mutation

Incidental Mutation 'R8025:Carns1'

617680

Institutional Source

Beutler Lab

Gene Symbol

Carns1

Ensembl Gene

ENSMUSG00000075289

Gene Name

carnosine synthase 1

Synonyms

Atpgd1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R8025 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4164324-4175479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4166506 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 559 (I559N)

Ref Sequence

ENSEMBL: ENSMUSP00000131624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025749] [ENSMUST00000118483] [ENSMUST00000127605] [ENSMUST00000130469] [ENSMUST00000137431] [ENSMUST00000167055]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025749

SMART Domains

Protein: ENSMUSP00000025749
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
S_TKc	67	328	2.56e-103	SMART
S_TK_X	329	391	2.6e-26	SMART
low complexity region	406	421	N/A	INTRINSIC
low complexity region	428	485	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118483

SMART Domains

Protein: ENSMUSP00000112512
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
S_TKc	67	328	2.56e-103	SMART
S_TK_X	329	384	1.69e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127605

SMART Domains

Protein: ENSMUSP00000123376
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
S_TKc	67	304	1.6e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130469

SMART Domains

Protein: ENSMUSP00000117446
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
Pfam:Pkinase	67	153	2.7e-14	PFAM
Pfam:Pkinase_Tyr	67	153	9.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137431

SMART Domains

Protein: ENSMUSP00000116744
Gene: ENSMUSG00000024830

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
Pfam:Pkinase_Tyr	67	277	4.6e-31	PFAM
Pfam:Pkinase	67	278	2.2e-62	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167055
AA Change: I559N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131624
Gene: ENSMUSG00000075289
AA Change: I559N

Domain	Start	End	E-Value	Type
low complexity region	206	217	N/A	INTRINSIC
low complexity region	312	328	N/A	INTRINSIC
low complexity region	332	348	N/A	INTRINSIC
low complexity region	399	410	N/A	INTRINSIC
low complexity region	414	433	N/A	INTRINSIC
low complexity region	490	496	N/A	INTRINSIC
Pfam:ATP-grasp_4	620	819	4.1e-46	PFAM
low complexity region	862	875	N/A	INTRINSIC

Meta Mutation Damage Score

0.1437

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	T	G	3: 79,629,328	L51R	probably damaging	Het
Actl7b	T	C	4: 56,741,137	T74A	probably damaging	Het
Aip	C	A	19: 4,115,346	A207S	probably benign	Het
AL732309.1	A	G	2: 25,246,319		probably benign	Het
Apcdd1	G	T	18: 62,936,908	C82F	probably damaging	Het
Arhgap42	T	G	9: 9,005,822	I736L	probably benign	Het
Armc4	A	T	18: 7,127,224	N996K	probably benign	Het
Baz1a	A	T	12: 54,909,136	I1056N	probably benign	Het
Bzw2	T	C	12: 36,107,518	E316G	probably damaging	Het
Ccdc144b	C	A	3: 36,018,987	R382L	probably damaging	Het
Chrnb2	A	T	3: 89,761,342	V222E	probably damaging	Het
Cngb3	A	T	4: 19,280,960	N10Y	possibly damaging	Het
Dennd1b	A	G	1: 139,110,420	K267E		Het
Dhx32	A	G	7: 133,721,371	Y705H	probably damaging	Het
Dnah7c	G	A	1: 46,457,296	V114I	probably benign	Het
Dnah8	T	A	17: 30,741,337	C2229*	probably null	Het
Gm14401	T	C	2: 177,086,456	F112L	probably damaging	Het
Gm9573	GTGCTGGATTCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAGCCACTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA	GTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA	17: 35,620,987		probably benign	Het
Habp4	G	A	13: 64,174,831	R238H	probably benign	Het
Herpud1	A	G	8: 94,392,521	Y301C	probably damaging	Het
Itih5	G	A	2: 10,241,022	A641T	probably benign	Het
Kcns3	A	T	12: 11,091,845	N284K	probably damaging	Het
Mcrs1	G	A	15: 99,246,933	Q267*	probably null	Het
Midn	G	A	10: 80,155,292	A379T	probably benign	Het
Olfr1028	A	T	2: 85,951,512	I150F	probably benign	Het
Olfr462	A	T	11: 87,888,951		probably null	Het
Olfr561	T	C	7: 102,775,256	V244A	probably benign	Het
Olfr716	A	G	7: 107,147,723	M136V	possibly damaging	Het
Olfr869	T	C	9: 20,137,632	V172A	probably benign	Het
Parpbp	T	C	10: 88,093,108	D490G	probably benign	Het
Pcbp2	T	A	15: 102,488,276	S262R	probably benign	Het
Pcdhgc5	T	C	18: 37,820,939	I422T	possibly damaging	Het
Pcsk5	T	A	19: 17,561,051		probably benign	Het
Plxna1	G	A	6: 89,331,272	R1278W	probably damaging	Het
Polr1c	A	G	17: 46,245,048	L162P	probably damaging	Het
Rasl2-9	A	G	7: 5,125,482	S150P	probably damaging	Het
Raver2	C	A	4: 101,102,965	S214*	probably null	Het
Rbpjl	C	A	2: 164,410,246		probably benign	Het
Rec114	T	G	9: 58,660,322	E127A	possibly damaging	Het
Recql5	C	A	11: 115,928,112	L209F	probably damaging	Het
Rgs11	T	C	17: 26,204,385		probably null	Het
Rgs3	C	A	4: 62,690,594	H366N	probably damaging	Het
Rnf148	C	T	6: 23,654,197	D267N	possibly damaging	Het
Scn1a	T	C	2: 66,318,213	N1007S	probably benign	Het
Sdcbp	A	G	4: 6,393,022	T220A	probably benign	Het
Sema5a	A	G	15: 32,548,782	N134S	probably benign	Het
Smg1	G	A	7: 118,206,989	Q210*	probably null	Het
Snx7	A	G	3: 117,832,877	V328A	probably benign	Het
Sult1c2	A	T	17: 53,831,809	S247T	probably benign	Het
Tceanc2	C	T	4: 107,139,800		probably null	Het
Tead3	T	C	17: 28,335,035	D141G	probably benign	Het
Tmem136	T	A	9: 43,111,553	T169S	probably benign	Het
Ube3b	T	C	5: 114,408,209	M692T	probably damaging	Het
Vmn1r188	T	C	13: 22,087,914	F13L	probably benign	Het
Vmn2r3	A	G	3: 64,275,450	V276A	possibly damaging	Het
Vmn2r57	A	G	7: 41,426,759	I443T	probably benign	Het
Vps33a	T	C	5: 123,558,675	N305S	possibly damaging	Het
Vps33b	A	T	7: 80,290,346		probably benign	Het
Wdr34	T	C	2: 30,048,718	Q51R	probably benign	Het
Wdr72	T	A	9: 74,143,499	M91K	probably benign	Het
Xylb	T	C	9: 119,381,503	F351L	probably damaging	Het
Zan	C	T	5: 137,406,352	D3883N	unknown	Het
Zfp82	T	A	7: 30,056,853	H268L	probably damaging	Het

Other mutations in Carns1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Carns1	APN	19	4166499	splice site	probably null
IGL02246:Carns1	APN	19	4166432	missense	possibly damaging	0.87
IGL02658:Carns1	APN	19	4173084	missense	probably benign	0.01
IGL02800:Carns1	APN	19	4166570	splice site	probably benign
R1750:Carns1	UTSW	19	4173157	missense	possibly damaging	0.63
R1902:Carns1	UTSW	19	4166338	missense	probably damaging	1.00
R1935:Carns1	UTSW	19	4165474	missense	probably damaging	1.00
R2434:Carns1	UTSW	19	4165449	missense	probably damaging	1.00
R2437:Carns1	UTSW	19	4165783	missense	possibly damaging	0.69
R3772:Carns1	UTSW	19	4170916	splice site	probably benign
R4091:Carns1	UTSW	19	4171683	missense	probably damaging	0.96
R4518:Carns1	UTSW	19	4170070	missense	probably benign	0.05
R4668:Carns1	UTSW	19	4165476	nonsense	probably null
R4737:Carns1	UTSW	19	4170928	intron	probably benign
R4751:Carns1	UTSW	19	4166418	missense	probably damaging	1.00
R5384:Carns1	UTSW	19	4171901	critical splice acceptor site	probably null
R6077:Carns1	UTSW	19	4170876	missense	probably benign	0.01
R6373:Carns1	UTSW	19	4166516	missense	probably benign	0.41
R6411:Carns1	UTSW	19	4166464	missense	probably damaging	1.00
R6470:Carns1	UTSW	19	4171783	missense	possibly damaging	0.85
R6486:Carns1	UTSW	19	4169980	missense	probably benign	0.04
R6915:Carns1	UTSW	19	4169913	missense	probably benign	0.34
R6981:Carns1	UTSW	19	4170082	missense	probably benign	0.00
R7936:Carns1	UTSW	19	4166153	missense	probably benign
R9279:Carns1	UTSW	19	4166257	missense	possibly damaging	0.51
R9711:Carns1	UTSW	19	4166008	missense	possibly damaging	0.94
R9725:Carns1	UTSW	19	4166549	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTCTTCTGCTTTGCCAAG -3'
(R):5'- CAGGCTGAAGTAGGTGTCTCAC -3'

Sequencing Primer
(F):5'- GCACATGGCAGCTGGGG -3'
(R):5'- TATCGTCCATGACCCAAC -3'

Posted On

2020-01-23