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

045570-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) 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 (GRCm38)	I145F	probably benign	Het
Acvr2b	T	A	9: 119,433,286 (GRCm38)	V455E	probably benign	Het
Adgrv1	A	T	13: 81,440,225 (GRCm38)	V4414E	possibly damaging	Het
Agap2	T	C	10: 127,090,965 (GRCm38)	V977A	probably damaging	Het
Aph1b	A	C	9: 66,794,119 (GRCm38)	S79A	probably damaging	Het
Atm	G	A	9: 53,511,891 (GRCm38)	S645L	probably benign	Het
Ccdc173	A	C	2: 69,758,448 (GRCm38)	N439K	probably benign	Het
Cdh11	T	C	8: 102,673,824 (GRCm38)	R171G	probably benign	Het
Ces2f	T	A	8: 104,954,698 (GRCm38)	D556E	probably benign	Het
Cyp26b1	C	A	6: 84,576,982 (GRCm38)	V218L	possibly damaging	Het
D11Wsu47e	T	A	11: 113,692,397 (GRCm38)	W517R	probably damaging	Het
Diaph1	T	C	18: 37,895,300 (GRCm38)		probably null	Het
Dock1	A	G	7: 134,765,274 (GRCm38)	I482V	probably benign	Het
Dok4	A	T	8: 94,867,425 (GRCm38)	D47E	possibly damaging	Het
Dqx1	T	A	6: 83,059,047 (GRCm38)	L120Q	probably damaging	Het
Duxf3	A	T	10: 58,230,736 (GRCm38)	V157E	probably damaging	Het
Eif2a	C	A	3: 58,548,681 (GRCm38)	P367Q	probably damaging	Het
Elp2	C	T	18: 24,611,928 (GRCm38)	R102C	probably damaging	Het
Erich2	T	C	2: 70,534,322 (GRCm38)	S347P	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,735,422 (GRCm38)		probably null	Het
Gadl1	A	T	9: 116,074,087 (GRCm38)	I495L	probably benign	Het
Gcnt4	A	G	13: 96,946,960 (GRCm38)	T255A	possibly damaging	Het
Gm10972	A	G	3: 94,643,580 (GRCm38)	K21E	unknown	Het
Gm11639	T	C	11: 104,762,690 (GRCm38)		probably null	Het
Gm7361	C	A	5: 26,261,190 (GRCm38)	H183Q	probably benign	Het
Gp2	C	T	7: 119,454,606 (GRCm38)	C44Y	probably damaging	Het
Hcar2	C	T	5: 123,865,186 (GRCm38)	V85I	probably benign	Het
Hira	T	C	16: 18,952,079 (GRCm38)	V822A	probably damaging	Het
Ighv1-5	T	A	12: 114,513,536 (GRCm38)	T49S	probably damaging	Het
Ints1	C	T	5: 139,768,976 (GRCm38)	V603M	probably damaging	Het
Kdm2a	A	C	19: 4,324,376 (GRCm38)	L909R	probably damaging	Het
Klkb1	T	A	8: 45,294,790 (GRCm38)		probably benign	Het
Krit1	A	G	5: 3,812,349 (GRCm38)	H168R	possibly damaging	Het
Map3k21	A	T	8: 125,927,601 (GRCm38)	E386D	probably damaging	Het
Muc16	C	T	9: 18,645,089 (GRCm38)	E3303K	unknown	Het
Muc5b	T	G	7: 141,861,513 (GRCm38)	V2732G	possibly damaging	Het
Myo5a	T	C	9: 75,197,701 (GRCm38)	L189P		Het
Nlrc5	T	C	8: 94,521,970 (GRCm38)	L1740S	probably damaging	Het
Nolc1	A	G	19: 46,082,818 (GRCm38)	K402R	probably benign	Het
Olfr1272	T	A	2: 90,281,754 (GRCm38)	T274S	possibly damaging	Het
Olfr52	T	C	2: 86,182,073 (GRCm38)	I13V	probably benign	Het
Olfr601	T	C	7: 103,359,012 (GRCm38)	M61V	probably damaging	Het
Olfr727	T	A	14: 50,127,495 (GRCm38)	L306Q	probably benign	Het
Pnmal2	A	G	7: 16,944,949 (GRCm38)		probably benign	Het
Pnpt1	A	T	11: 29,130,860 (GRCm38)	M35L	probably benign	Het
Postn	A	G	3: 54,362,670 (GRCm38)	K57E	probably damaging	Het
Ppp1r9a	A	C	6: 4,905,775 (GRCm38)	D110A	probably damaging	Het
Pptc7	G	A	5: 122,284,879 (GRCm38)	V71M	possibly damaging	Het
Prdm11	T	A	2: 93,012,707 (GRCm38)	I136F	possibly damaging	Het
Rfc1	A	G	5: 65,279,498 (GRCm38)	L613P	probably damaging	Het
Ryr3	T	C	2: 112,730,473 (GRCm38)	D2981G	probably benign	Het
Sbf2	C	A	7: 110,614,716 (GRCm38)	E16*	probably null	Het
Scara3	T	C	14: 65,931,202 (GRCm38)	E322G	probably damaging	Het
Sema5b	T	A	16: 35,661,330 (GRCm38)	C893S	probably damaging	Het
Setdb1	T	C	3: 95,341,828 (GRCm38)	D323G	probably damaging	Het
Slc19a3	T	C	1: 83,013,928 (GRCm38)	Y453C	probably damaging	Het
Snx5	T	C	2: 144,257,974 (GRCm38)	K137E	probably damaging	Het
Taar8c	G	A	10: 24,101,218 (GRCm38)	T232I	probably benign	Het
Taok2	G	A	7: 126,874,878 (GRCm38)	T352I	probably damaging	Het
Ttc3	C	A	16: 94,418,682 (GRCm38)	R489S	possibly damaging	Het
Usp12	A	T	5: 146,752,454 (GRCm38)		probably null	Het
Usp16	T	A	16: 87,466,286 (GRCm38)	C125*	probably null	Het
Vmn2r106	C	T	17: 20,267,939 (GRCm38)	E733K	probably damaging	Het
Vps13b	T	A	15: 35,876,697 (GRCm38)	I2832K	probably benign	Het
Vps13c	A	G	9: 67,840,479 (GRCm38)	Y18C	probably damaging	Het
Zfp160	T	A	17: 21,026,193 (GRCm38)	I335K	probably benign	Het
Zfp788	A	T	7: 41,648,851 (GRCm38)	I304F	possibly damaging	Het

Other mutations in Als2cr12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01521:Als2cr12	APN	1	58,670,394 (GRCm38)	missense	probably damaging	0.98
IGL02549:Als2cr12	APN	1	58,659,282 (GRCm38)	missense	probably benign	0.05
IGL02647:Als2cr12	APN	1	58,670,454 (GRCm38)	missense	probably benign
IGL03098:Als2cr12	UTSW	1	58,691,749 (GRCm38)	missense	probably benign	0.06
PIT4504001:Als2cr12	UTSW	1	58,659,099 (GRCm38)	missense	probably benign	0.20
R1147:Als2cr12	UTSW	1	58,669,463 (GRCm38)	missense	probably damaging	0.99
R1147:Als2cr12	UTSW	1	58,669,463 (GRCm38)	missense	probably damaging	0.99
R1959:Als2cr12	UTSW	1	58,659,278 (GRCm38)	missense	possibly damaging	0.92
R1960:Als2cr12	UTSW	1	58,659,278 (GRCm38)	missense	possibly damaging	0.92
R3815:Als2cr12	UTSW	1	58,659,005 (GRCm38)	missense	probably damaging	0.98
R4445:Als2cr12	UTSW	1	58,666,921 (GRCm38)	missense	possibly damaging	0.83
R4617:Als2cr12	UTSW	1	58,661,442 (GRCm38)	missense	probably benign	0.19
R4720:Als2cr12	UTSW	1	58,678,348 (GRCm38)	missense	possibly damaging	0.46
R4816:Als2cr12	UTSW	1	58,670,408 (GRCm38)	missense	probably benign	0.10
R4947:Als2cr12	UTSW	1	58,676,539 (GRCm38)	missense	probably benign	0.05
R4960:Als2cr12	UTSW	1	58,667,806 (GRCm38)	missense	probably damaging	0.98
R4970:Als2cr12	UTSW	1	58,659,282 (GRCm38)	missense	probably benign	0.05
R5018:Als2cr12	UTSW	1	58,690,950 (GRCm38)	missense	probably benign
R5112:Als2cr12	UTSW	1	58,659,282 (GRCm38)	missense	probably benign	0.05
R5269:Als2cr12	UTSW	1	58,691,760 (GRCm38)	missense	possibly damaging	0.83
R5426:Als2cr12	UTSW	1	58,666,886 (GRCm38)	nonsense	probably null
R5541:Als2cr12	UTSW	1	58,658,429 (GRCm38)	missense	probably benign	0.03
R5845:Als2cr12	UTSW	1	58,667,778 (GRCm38)	missense	possibly damaging	0.46
R5863:Als2cr12	UTSW	1	58,691,749 (GRCm38)	missense	probably benign	0.06
R6364:Als2cr12	UTSW	1	58,658,372 (GRCm38)	missense	probably damaging	0.96
R6430:Als2cr12	UTSW	1	58,678,289 (GRCm38)	missense	probably damaging	0.98
R6527:Als2cr12	UTSW	1	58,692,413 (GRCm38)	start codon destroyed	probably null	0.01
R6573:Als2cr12	UTSW	1	58,666,844 (GRCm38)	missense	probably benign	0.27
R7367:Als2cr12	UTSW	1	58,666,864 (GRCm38)	missense	probably benign	0.07
R7459:Als2cr12	UTSW	1	58,691,752 (GRCm38)	missense	possibly damaging	0.46
R8317:Als2cr12	UTSW	1	58,676,548 (GRCm38)	missense	possibly damaging	0.94
R8925:Als2cr12	UTSW	1	58,667,723 (GRCm38)	splice site	probably null
R9542:Als2cr12	UTSW	1	58,678,345 (GRCm38)	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