Mutagenetix > Incidental Mutation

Incidental Mutation 'R7497:Als2cr12'

581105

Institutional Source

Beutler Lab

Gene Symbol

Als2cr12

Ensembl Gene

ENSMUSG00000047528

Gene Name

amyotrophic lateral sclerosis 2 chromosome region 12

Synonyms

4933425F06Rik, 4933405P16Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R7497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58646903-58695989 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58678308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 148 (D148V)

Ref Sequence

ENSEMBL: ENSMUSP00000139420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055313] [ENSMUST00000188772] [ENSMUST00000191252] [ENSMUST00000191565]

AlphaFold

Q8BVM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000055313
AA Change: D148V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000062497
Gene: ENSMUSG00000047528
AA Change: D148V

Domain	Start	End	E-Value	Type
coiled coil region	125	221	N/A	INTRINSIC
coiled coil region	276	359	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000188772
AA Change: D148V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140780
Gene: ENSMUSG00000047528
AA Change: D148V

Domain	Start	End	E-Value	Type
coiled coil region	125	221	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191252

Predicted Effect

probably damaging
Transcript: ENSMUST00000191565
AA Change: D148V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139420
Gene: ENSMUSG00000047528
AA Change: D148V

Domain	Start	End	E-Value	Type
coiled coil region	125	221	N/A	INTRINSIC
coiled coil region	276	359	N/A	INTRINSIC
low complexity region	386	404	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	A	15: 91,191,176	I145F	probably benign	Het
Acvr2b	T	A	9: 119,433,286	V455E	probably benign	Het
Adgrv1	A	T	13: 81,440,225	V4414E	possibly damaging	Het
Agap2	T	C	10: 127,090,965	V977A	probably damaging	Het
Aph1b	A	C	9: 66,794,119	S79A	probably damaging	Het
Atm	G	A	9: 53,511,891	S645L	probably benign	Het
Ccdc173	A	C	2: 69,758,448	N439K	probably benign	Het
Cdh11	T	C	8: 102,673,824	R171G	probably benign	Het
Ces2f	T	A	8: 104,954,698	D556E	probably benign	Het
Cyp26b1	C	A	6: 84,576,982	V218L	possibly damaging	Het
D11Wsu47e	T	A	11: 113,692,397	W517R	probably damaging	Het
Diaph1	T	C	18: 37,895,300		probably null	Het
Dock1	A	G	7: 134,765,274	I482V	probably benign	Het
Dok4	A	T	8: 94,867,425	D47E	possibly damaging	Het
Dqx1	T	A	6: 83,059,047	L120Q	probably damaging	Het
Duxf3	A	T	10: 58,230,736	V157E	probably damaging	Het
Eif2a	C	A	3: 58,548,681	P367Q	probably damaging	Het
Elp2	C	T	18: 24,611,928	R102C	probably damaging	Het
Erich2	T	C	2: 70,534,322	S347P	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,735,422		probably null	Het
Gadl1	A	T	9: 116,074,087	I495L	probably benign	Het
Gcnt4	A	G	13: 96,946,960	T255A	possibly damaging	Het
Gm10972	A	G	3: 94,643,580	K21E	unknown	Het
Gm11639	T	C	11: 104,762,690		probably null	Het
Gm7361	C	A	5: 26,261,190	H183Q	probably benign	Het
Gp2	C	T	7: 119,454,606	C44Y	probably damaging	Het
Hcar2	C	T	5: 123,865,186	V85I	probably benign	Het
Hira	T	C	16: 18,952,079	V822A	probably damaging	Het
Ighv1-5	T	A	12: 114,513,536	T49S	probably damaging	Het
Ints1	C	T	5: 139,768,976	V603M	probably damaging	Het
Kdm2a	A	C	19: 4,324,376	L909R	probably damaging	Het
Klkb1	T	A	8: 45,294,790		probably benign	Het
Krit1	A	G	5: 3,812,349	H168R	possibly damaging	Het
Map3k21	A	T	8: 125,927,601	E386D	probably damaging	Het
Muc16	C	T	9: 18,645,089	E3303K	unknown	Het
Muc5b	T	G	7: 141,861,513	V2732G	possibly damaging	Het
Myo5a	T	C	9: 75,197,701	L189P		Het
Nlrc5	T	C	8: 94,521,970	L1740S	probably damaging	Het
Nolc1	A	G	19: 46,082,818	K402R	probably benign	Het
Olfr1272	T	A	2: 90,281,754	T274S	possibly damaging	Het
Olfr52	T	C	2: 86,182,073	I13V	probably benign	Het
Olfr601	T	C	7: 103,359,012	M61V	probably damaging	Het
Olfr727	T	A	14: 50,127,495	L306Q	probably benign	Het
Pnmal2	A	G	7: 16,944,949		probably benign	Het
Pnpt1	A	T	11: 29,130,860	M35L	probably benign	Het
Postn	A	G	3: 54,362,670	K57E	probably damaging	Het
Ppp1r9a	A	C	6: 4,905,775	D110A	probably damaging	Het
Pptc7	G	A	5: 122,284,879	V71M	possibly damaging	Het
Prdm11	T	A	2: 93,012,707	I136F	possibly damaging	Het
Rfc1	A	G	5: 65,279,498	L613P	probably damaging	Het
Ryr3	T	C	2: 112,730,473	D2981G	probably benign	Het
Sbf2	C	A	7: 110,614,716	E16*	probably null	Het
Scara3	T	C	14: 65,931,202	E322G	probably damaging	Het
Sema5b	T	A	16: 35,661,330	C893S	probably damaging	Het
Setdb1	T	C	3: 95,341,828	D323G	probably damaging	Het
Slc19a3	T	C	1: 83,013,928	Y453C	probably damaging	Het
Snx5	T	C	2: 144,257,974	K137E	probably damaging	Het
Taar8c	G	A	10: 24,101,218	T232I	probably benign	Het
Taok2	G	A	7: 126,874,878	T352I	probably damaging	Het
Ttc3	C	A	16: 94,418,682	R489S	possibly damaging	Het
Usp12	A	T	5: 146,752,454		probably null	Het
Usp16	T	A	16: 87,466,286	C125*	probably null	Het
Vmn2r106	C	T	17: 20,267,939	E733K	probably damaging	Het
Vps13b	T	A	15: 35,876,697	I2832K	probably benign	Het
Vps13c	A	G	9: 67,840,479	Y18C	probably damaging	Het
Zfp160	T	A	17: 21,026,193	I335K	probably benign	Het
Zfp788	A	T	7: 41,648,851	I304F	possibly damaging	Het

Other mutations in Als2cr12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01521:Als2cr12	APN	1	58670394	missense	probably damaging	0.98
IGL02549:Als2cr12	APN	1	58659282	missense	probably benign	0.05
IGL02647:Als2cr12	APN	1	58670454	missense	probably benign
IGL03098:Als2cr12	UTSW	1	58691749	missense	probably benign	0.06
PIT4504001:Als2cr12	UTSW	1	58659099	missense	probably benign	0.20
R1147:Als2cr12	UTSW	1	58669463	missense	probably damaging	0.99
R1147:Als2cr12	UTSW	1	58669463	missense	probably damaging	0.99
R1959:Als2cr12	UTSW	1	58659278	missense	possibly damaging	0.92
R1960:Als2cr12	UTSW	1	58659278	missense	possibly damaging	0.92
R3815:Als2cr12	UTSW	1	58659005	missense	probably damaging	0.98
R4445:Als2cr12	UTSW	1	58666921	missense	possibly damaging	0.83
R4617:Als2cr12	UTSW	1	58661442	missense	probably benign	0.19
R4720:Als2cr12	UTSW	1	58678348	missense	possibly damaging	0.46
R4816:Als2cr12	UTSW	1	58670408	missense	probably benign	0.10
R4947:Als2cr12	UTSW	1	58676539	missense	probably benign	0.05
R4960:Als2cr12	UTSW	1	58667806	missense	probably damaging	0.98
R4970:Als2cr12	UTSW	1	58659282	missense	probably benign	0.05
R5018:Als2cr12	UTSW	1	58690950	missense	probably benign
R5112:Als2cr12	UTSW	1	58659282	missense	probably benign	0.05
R5269:Als2cr12	UTSW	1	58691760	missense	possibly damaging	0.83
R5426:Als2cr12	UTSW	1	58666886	nonsense	probably null
R5541:Als2cr12	UTSW	1	58658429	missense	probably benign	0.03
R5845:Als2cr12	UTSW	1	58667778	missense	possibly damaging	0.46
R5863:Als2cr12	UTSW	1	58691749	missense	probably benign	0.06
R6364:Als2cr12	UTSW	1	58658372	missense	probably damaging	0.96
R6430:Als2cr12	UTSW	1	58678289	missense	probably damaging	0.98
R6527:Als2cr12	UTSW	1	58692413	start codon destroyed	probably null	0.01
R6573:Als2cr12	UTSW	1	58666844	missense	probably benign	0.27
R7367:Als2cr12	UTSW	1	58666864	missense	probably benign	0.07
R7459:Als2cr12	UTSW	1	58691752	missense	possibly damaging	0.46
R8317:Als2cr12	UTSW	1	58676548	missense	possibly damaging	0.94
R8925:Als2cr12	UTSW	1	58667723	splice site	probably null
R9542:Als2cr12	UTSW	1	58678345	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- CCAGGAATGCAATGTCTTTCAG -3'
(R):5'- TGCCTTAGTCGTGGAGAAGAC -3'

Sequencing Primer
(F):5'- CAGTTTTTACAGAGATGGATGAGG -3'
(R):5'- CCTTAGTCGTGGAGAAGACACAAAC -3'

Posted On

2019-10-17