Mutagenetix > Incidental Mutation

Incidental Mutation 'R4751:Carns1'

357648

Institutional Source

Beutler Lab

Gene Symbol

Carns1

Ensembl Gene

ENSMUSG00000075289

Gene Name

carnosine synthase 1

Synonyms

Atpgd1

MMRRC Submission

041970-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4164324-4175479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4166418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 588 (D588E)

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

noncoding transcript
Transcript: ENSMUST00000125057

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

noncoding transcript
Transcript: ENSMUST00000135911

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

noncoding transcript
Transcript: ENSMUST00000151727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155303

Predicted Effect

probably damaging
Transcript: ENSMUST00000167055
AA Change: D588E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131624
Gene: ENSMUSG00000075289
AA Change: D588E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181211

Meta Mutation Damage Score

0.2175

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

95% (124/131)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	T	7: 128,237,086 (GRCm38)	C112S	probably benign	Het
Abca13	G	A	11: 9,277,973 (GRCm38)		probably null	Het
Abca14	A	G	7: 120,312,177 (GRCm38)	E1328G	probably benign	Het
Abca9	T	A	11: 110,130,570 (GRCm38)	I1105F	probably benign	Het
Abr	T	C	11: 76,456,608 (GRCm38)	N396D	possibly damaging	Het
Aftph	A	C	11: 20,727,074 (GRCm38)	C178W	probably damaging	Het
Akr1c14	T	C	13: 4,065,338 (GRCm38)	F89S	possibly damaging	Het
Ank3	C	T	10: 69,986,206 (GRCm38)	A1518V	probably benign	Het
Arfgap2	T	G	2: 91,267,368 (GRCm38)	S143R	probably benign	Het
Aspdh	T	A	7: 44,467,205 (GRCm38)	C107*	probably null	Het
Asphd2	C	A	5: 112,391,746 (GRCm38)	G74W	probably damaging	Het
AU040320	G	A	4: 126,854,466 (GRCm38)		probably null	Het
B3glct	T	A	5: 149,725,402 (GRCm38)		probably null	Het
Bcl9l	A	G	9: 44,506,803 (GRCm38)	K646R	probably damaging	Het
Brat1	T	G	5: 140,718,296 (GRCm38)	L768R	probably damaging	Het
Btbd18	T	A	2: 84,667,921 (GRCm38)	Y634*	probably null	Het
Bub1	T	A	2: 127,823,938 (GRCm38)		probably benign	Het
Cast	T	C	13: 74,746,047 (GRCm38)	K141E	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500 (GRCm38)		probably benign	Het
Chsy3	T	C	18: 59,175,800 (GRCm38)	S42P	possibly damaging	Het
Clca1	A	T	3: 145,004,848 (GRCm38)	F865I	possibly damaging	Het
Clec4f	T	A	6: 83,645,282 (GRCm38)	M526L	possibly damaging	Het
Clnk	T	C	5: 38,720,913 (GRCm38)	E301G	probably benign	Het
Colgalt2	T	A	1: 152,489,876 (GRCm38)	I309N	probably benign	Het
Cyp2e1	A	T	7: 140,774,716 (GRCm38)	K326*	probably null	Het
Dagla	T	A	19: 10,250,394 (GRCm38)	T717S	probably benign	Het
Dnajc11	G	A	4: 151,968,542 (GRCm38)	R141H	probably benign	Het
Dst	A	G	1: 34,191,884 (GRCm38)	K2853E	probably benign	Het
Eif4g1	A	G	16: 20,686,515 (GRCm38)	K1208E	possibly damaging	Het
Elane	A	G	10: 79,886,791 (GRCm38)	R48G	probably benign	Het
Fbxo30	T	A	10: 11,290,195 (GRCm38)	N220K	probably benign	Het
Fbxo33	A	T	12: 59,200,928 (GRCm38)		probably benign	Het
Fetub	G	A	16: 22,937,895 (GRCm38)	V169I	probably benign	Het
Gm13762	A	G	2: 88,973,133 (GRCm38)	C253R	probably damaging	Het
Gm5861	T	A	5: 11,186,491 (GRCm38)	Y138N	probably damaging	Het
Gpx6	A	C	13: 21,317,064 (GRCm38)	Q107H	probably damaging	Het
Hist2h2bb	A	T	3: 96,269,151 (GRCm38)		probably benign	Het
Homer3	A	T	8: 70,285,434 (GRCm38)	I19F	probably damaging	Het
Hspa4	C	T	11: 53,284,199 (GRCm38)	V144I	probably benign	Het
Icos	C	T	1: 60,993,717 (GRCm38)	S25L	probably benign	Het
Ifna4	A	G	4: 88,841,948 (GRCm38)	T30A	probably benign	Het
Ino80b	C	T	6: 83,124,750 (GRCm38)	G46D	probably damaging	Het
Kpna2	T	G	11: 106,992,664 (GRCm38)	I100L	possibly damaging	Het
Krt71	C	T	15: 101,735,466 (GRCm38)	G446R	probably damaging	Het
Krtap31-2	A	G	11: 99,936,576 (GRCm38)	N78S	possibly damaging	Het
Lman1	A	G	18: 65,998,434 (GRCm38)	S132P	probably benign	Het
Lmna	T	C	3: 88,486,533 (GRCm38)	Q246R	possibly damaging	Het
Lrp10	T	A	14: 54,468,592 (GRCm38)	V413E	probably damaging	Het
Macf1	A	C	4: 123,471,650 (GRCm38)	I1541S	probably benign	Het
Med24	A	G	11: 98,706,432 (GRCm38)	L874P	probably damaging	Het
Mgll	T	A	6: 88,725,111 (GRCm38)		probably benign	Het
Mrpl37	A	T	4: 107,057,475 (GRCm38)	L364Q	probably damaging	Het
Mrpl47	C	T	3: 32,728,441 (GRCm38)	R209H	probably benign	Het
Muc5ac	T	C	7: 141,817,601 (GRCm38)	F3285L	probably benign	Het
Mylk	A	G	16: 34,879,169 (GRCm38)	R301G	probably benign	Het
Nacad	A	G	11: 6,605,726 (GRCm38)	L8P	unknown	Het
Ncf1	T	A	5: 134,229,545 (GRCm38)	H8L	probably damaging	Het
Ncoa3	T	A	2: 166,069,903 (GRCm38)	M1383K	possibly damaging	Het
Necab2	C	T	8: 119,467,598 (GRCm38)	S271L	probably benign	Het
Nme8	A	T	13: 19,675,638 (GRCm38)		probably null	Het
Nsrp1	T	G	11: 77,076,719 (GRCm38)	T16P	possibly damaging	Het
Obox3	A	T	7: 15,625,692 (GRCm38)		probably null	Het
Olfr1211	T	A	2: 88,929,914 (GRCm38)	I134F	probably damaging	Het
Olfr1416	C	A	1: 92,479,983 (GRCm38)	A213S	probably benign	Het
Olfr1428	T	A	19: 12,109,177 (GRCm38)	Y123F	probably damaging	Het
Olfr355	T	C	2: 36,927,583 (GRCm38)	H177R	probably damaging	Het
Olfr667	A	T	7: 104,916,410 (GRCm38)	Y295*	probably null	Het
Osbpl3	C	G	6: 50,300,997 (GRCm38)	E790Q	possibly damaging	Het
Osmr	A	T	15: 6,842,852 (GRCm38)	W254R	probably damaging	Het
Otoa	T	C	7: 121,132,924 (GRCm38)		probably benign	Het
Pagr1a	A	T	7: 127,015,379 (GRCm38)	L218H	probably damaging	Het
Pcdha11	G	A	18: 37,006,944 (GRCm38)	G542D	probably damaging	Het
Pck2	T	A	14: 55,542,561 (GRCm38)	I54N	probably damaging	Het
Ppif	T	C	14: 25,699,499 (GRCm38)	V173A	probably damaging	Het
Ptgs2	T	A	1: 150,104,020 (GRCm38)	L292H	probably damaging	Het
Ptpru	A	G	4: 131,802,586 (GRCm38)	S604P	probably damaging	Het
Qrfpr	T	C	3: 36,182,622 (GRCm38)	H210R	possibly damaging	Het
Rasgrf1	A	G	9: 90,012,866 (GRCm38)	H1113R	probably damaging	Het
Rasgrf1	A	G	9: 89,910,118 (GRCm38)	T41A	probably damaging	Het
Rhoc	T	A	3: 104,792,647 (GRCm38)	I80N	probably damaging	Het
Riok3	A	G	18: 12,153,983 (GRCm38)	N472S	probably benign	Het
Rnf213	A	G	11: 119,445,745 (GRCm38)	Y3314C	probably benign	Het
Shank2	C	T	7: 144,409,468 (GRCm38)	T264I	probably damaging	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Sipa1l1	A	G	12: 82,341,194 (GRCm38)	I65V	probably benign	Het
Slc22a19	T	C	19: 7,691,145 (GRCm38)	K291R	possibly damaging	Het
Slc22a20	T	C	19: 5,980,460 (GRCm38)	I315V	probably benign	Het
Slc44a1	A	T	4: 53,560,973 (GRCm38)	D563V	probably damaging	Het
Smchd1	A	T	17: 71,391,468 (GRCm38)	H1104Q	probably benign	Het
Spcs2	A	T	7: 99,844,769 (GRCm38)		probably null	Het
Sptb	T	C	12: 76,627,110 (GRCm38)	E301G	probably benign	Het
Stum	T	C	1: 180,442,669 (GRCm38)	D86G	probably damaging	Het
Sufu	A	T	19: 46,483,649 (GRCm38)	D449V	probably benign	Het
Sun5	T	C	2: 153,866,016 (GRCm38)		probably null	Het
Tbc1d15	T	A	10: 115,202,587 (GRCm38)	I574F	probably damaging	Het
Tert	G	A	13: 73,628,063 (GRCm38)	S311N	possibly damaging	Het
Tiparp	T	C	3: 65,552,804 (GRCm38)	Y507H	probably damaging	Het
Tnk2	T	C	16: 32,679,857 (GRCm38)	C158R	probably damaging	Het
Tpgs1	T	C	10: 79,675,620 (GRCm38)	S199P	possibly damaging	Het
Trdmt1	G	T	2: 13,544,653 (GRCm38)		probably benign	Het
Trp53bp1	T	A	2: 121,227,809 (GRCm38)	D944V	probably damaging	Het
Tsc1	T	A	2: 28,679,081 (GRCm38)	I720N	probably damaging	Het
Ttn	T	C	2: 76,897,581 (GRCm38)		probably benign	Het
Ttn	T	C	2: 76,709,605 (GRCm38)	T34346A	probably benign	Het
Uba7	T	A	9: 107,979,805 (GRCm38)	C686S	possibly damaging	Het
Ush2a	T	A	1: 188,850,087 (GRCm38)	F3782L	probably damaging	Het
Vars2	A	T	17: 35,659,343 (GRCm38)	H745Q	possibly damaging	Het
Vgf	T	A	5: 137,032,401 (GRCm38)	D472E	probably damaging	Het
Vmn2r15	T	C	5: 109,286,754 (GRCm38)	M695V	probably benign	Het
Vps41	A	T	13: 18,811,622 (GRCm38)	D208V	probably damaging	Het
Vta1	C	T	10: 14,655,816 (GRCm38)	A272T	probably benign	Het
Wnk4	G	A	11: 101,276,362 (GRCm38)		probably benign	Het
Zfp507	T	C	7: 35,794,382 (GRCm38)	K412R	probably damaging	Het
Zfp768	A	G	7: 127,344,762 (GRCm38)	F65L	possibly damaging	Het
Zfp956	T	C	6: 47,963,576 (GRCm38)	S290P	probably benign	Het

Other mutations in Carns1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Carns1	APN	19	4,166,499 (GRCm38)	splice site	probably null
IGL02246:Carns1	APN	19	4,166,432 (GRCm38)	missense	possibly damaging	0.87
IGL02658:Carns1	APN	19	4,173,084 (GRCm38)	missense	probably benign	0.01
IGL02800:Carns1	APN	19	4,166,570 (GRCm38)	splice site	probably benign
R1750:Carns1	UTSW	19	4,173,157 (GRCm38)	missense	possibly damaging	0.63
R1902:Carns1	UTSW	19	4,166,338 (GRCm38)	missense	probably damaging	1.00
R1935:Carns1	UTSW	19	4,165,474 (GRCm38)	missense	probably damaging	1.00
R2434:Carns1	UTSW	19	4,165,449 (GRCm38)	missense	probably damaging	1.00
R2437:Carns1	UTSW	19	4,165,783 (GRCm38)	missense	possibly damaging	0.69
R3772:Carns1	UTSW	19	4,170,916 (GRCm38)	splice site	probably benign
R4091:Carns1	UTSW	19	4,171,683 (GRCm38)	missense	probably damaging	0.96
R4518:Carns1	UTSW	19	4,170,070 (GRCm38)	missense	probably benign	0.05
R4668:Carns1	UTSW	19	4,165,476 (GRCm38)	nonsense	probably null
R4737:Carns1	UTSW	19	4,170,928 (GRCm38)	intron	probably benign
R5384:Carns1	UTSW	19	4,171,901 (GRCm38)	critical splice acceptor site	probably null
R6077:Carns1	UTSW	19	4,170,876 (GRCm38)	missense	probably benign	0.01
R6373:Carns1	UTSW	19	4,166,516 (GRCm38)	missense	probably benign	0.41
R6411:Carns1	UTSW	19	4,166,464 (GRCm38)	missense	probably damaging	1.00
R6470:Carns1	UTSW	19	4,171,783 (GRCm38)	missense	possibly damaging	0.85
R6486:Carns1	UTSW	19	4,169,980 (GRCm38)	missense	probably benign	0.04
R6915:Carns1	UTSW	19	4,169,913 (GRCm38)	missense	probably benign	0.34
R6981:Carns1	UTSW	19	4,170,082 (GRCm38)	missense	probably benign	0.00
R7936:Carns1	UTSW	19	4,166,153 (GRCm38)	missense	probably benign
R8025:Carns1	UTSW	19	4,166,506 (GRCm38)	missense	probably damaging	1.00
R9279:Carns1	UTSW	19	4,166,257 (GRCm38)	missense	possibly damaging	0.51
R9711:Carns1	UTSW	19	4,166,008 (GRCm38)	missense	possibly damaging	0.94
R9725:Carns1	UTSW	19	4,166,549 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGGCTCTCTCCACATCAGC -3'
(R):5'- GCTCACATGAATGTCCCTCC -3'

Sequencing Primer
(F):5'- TTCTCCAATGGGCAACAGG -3'
(R):5'- ACATGAATGTCCCTCCGGTTTG -3'

Posted On

2015-11-11