Mutagenetix > Incidental Mutation

Incidental Mutation 'R1647:Shc2'

173966

Institutional Source

Beutler Lab

Gene Symbol

Shc2

Ensembl Gene

ENSMUSG00000020312

Gene Name

SHC (Src homology 2 domain containing) transforming protein 2

Synonyms

ShcB, Sli

MMRRC Submission

039683-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1647 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79453885-79473752 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79461945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 367 (M367L)

Ref Sequence

ENSEMBL: ENSMUSP00000020564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020564]

AlphaFold

Q8BMC3

Predicted Effect

probably benign
Transcript: ENSMUST00000020564
AA Change: M367L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020564
Gene: ENSMUSG00000020312
AA Change: M367L

Domain	Start	End	E-Value	Type
PTB	1	154	4.43e-24	SMART
low complexity region	172	178	N/A	INTRINSIC
SH2	341	420	5.81e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163867
AA Change: M367L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129491
Gene: ENSMUSG00000020312
AA Change: M367L

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	67	85	N/A	INTRINSIC
PTB	126	289	7.41e-35	SMART
low complexity region	307	313	N/A	INTRINSIC
SH2	476	555	5.81e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168116

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

97% (70/72)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display sensory nerve defects related to nociception. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,768 (GRCm39)	S184P	probably damaging	Het
Adgb	A	G	10: 10,271,115 (GRCm39)	F817L	probably damaging	Het
Anxa10	T	C	8: 62,545,618 (GRCm39)	D38G	probably damaging	Het
Atp8b2	G	A	3: 89,849,091 (GRCm39)	A1081V	probably benign	Het
Baz1a	G	A	12: 55,021,983 (GRCm39)	R100C	probably damaging	Het
Ceacam18	A	C	7: 43,288,689 (GRCm39)	T147P	possibly damaging	Het
Cep170b	C	T	12: 112,702,806 (GRCm39)	T423I	probably damaging	Het
Chd6	A	G	2: 160,883,978 (GRCm39)	L89S	probably damaging	Het
Chrm3	A	T	13: 9,928,461 (GRCm39)	W192R	probably damaging	Het
Cnn1	C	A	9: 22,019,150 (GRCm39)	A202E	probably damaging	Het
Dcaf7	T	A	11: 105,942,628 (GRCm39)	F192I	probably damaging	Het
Eif2b5	T	C	16: 20,321,335 (GRCm39)	V296A	possibly damaging	Het
Entpd7	A	G	19: 43,710,184 (GRCm39)		probably benign	Het
Esr1	A	G	10: 4,951,260 (GRCm39)	E546G	possibly damaging	Het
Etaa1	C	A	11: 17,896,492 (GRCm39)	G542C	probably damaging	Het
Exosc8	A	T	3: 54,641,522 (GRCm39)		probably null	Het
Fras1	T	A	5: 96,874,472 (GRCm39)		probably null	Het
G930045G22Rik	T	C	6: 50,823,698 (GRCm39)		noncoding transcript	Het
Gm22697+Rbm27	AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC	AGGTCCCGGCCCAGGCCC	18: 42,434,948 (GRCm39)		probably benign	Het
Gpr155	T	C	2: 73,194,508 (GRCm39)		probably null	Het
Has1	A	G	17: 18,070,247 (GRCm39)	Y225H	probably damaging	Het
Hk3	A	G	13: 55,162,274 (GRCm39)	F110S	probably damaging	Het
Iars1	A	G	13: 49,876,478 (GRCm39)	K848E	possibly damaging	Het
Il22ra1	C	A	4: 135,477,771 (GRCm39)	H281N	probably damaging	Het
Inpp4b	G	T	8: 82,583,403 (GRCm39)		probably benign	Het
Itga11	A	G	9: 62,667,652 (GRCm39)	N662D	probably benign	Het
Kif20b	A	T	19: 34,914,190 (GRCm39)	T355S	possibly damaging	Het
Kif21a	T	C	15: 90,878,570 (GRCm39)	T237A	probably damaging	Het
Klc1	T	C	12: 111,743,321 (GRCm39)	L216P	probably damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lama3	A	G	18: 12,665,256 (GRCm39)	D2330G	possibly damaging	Het
Lamb2	G	A	9: 108,358,622 (GRCm39)		probably null	Het
Limch1	T	A	5: 67,156,599 (GRCm39)	S511R	probably damaging	Het
Lnx2	C	A	5: 146,964,152 (GRCm39)	V468L	probably benign	Het
Lrriq1	A	T	10: 103,006,509 (GRCm39)	C1205*	probably null	Het
Lsm4	A	G	8: 71,130,456 (GRCm39)	Y25C	probably damaging	Het
Macc1	T	C	12: 119,410,156 (GRCm39)	M308T	probably benign	Het
Miip	T	C	4: 147,949,691 (GRCm39)	S174G	probably benign	Het
Mroh9	T	G	1: 162,873,625 (GRCm39)	E510A	probably damaging	Het
Msh2	C	T	17: 87,980,064 (GRCm39)	A14V	probably benign	Het
Nbea	T	A	3: 55,537,650 (GRCm39)	I2828F	probably damaging	Het
Nkx2-3	A	T	19: 43,602,895 (GRCm39)	Q167L	probably damaging	Het
Nup160	T	C	2: 90,540,432 (GRCm39)	Y854H	probably damaging	Het
Or10a3n	A	G	7: 108,492,972 (GRCm39)	I214T	probably damaging	Het
Or51a10	A	G	7: 103,699,376 (GRCm39)	Y62H	probably damaging	Het
Or5an10	T	A	19: 12,276,023 (GRCm39)	I158L	probably benign	Het
Pate9	A	G	9: 36,445,736 (GRCm39)	S72P	possibly damaging	Het
Phldb1	G	A	9: 44,626,730 (GRCm39)	P572S	probably damaging	Het
Plcb2	A	T	2: 118,554,261 (GRCm39)	M64K	possibly damaging	Het
Prr12	T	A	7: 44,683,616 (GRCm39)	N1683Y	probably benign	Het
Prrg4	C	A	2: 104,663,088 (GRCm39)	A173S	probably benign	Het
Pygl	T	A	12: 70,243,784 (GRCm39)	I553F	possibly damaging	Het
Rasd1	T	C	11: 59,854,920 (GRCm39)	M187V	probably benign	Het
Rasgrf1	A	G	9: 89,835,973 (GRCm39)	I234V	probably benign	Het
Rps6ka4	C	A	19: 6,816,730 (GRCm39)	V118L	probably benign	Het
Sbspon	C	A	1: 15,953,983 (GRCm39)	R99L	probably damaging	Het
Sdhaf3	T	C	6: 6,956,126 (GRCm39)	Y34H	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Slc26a5	T	A	5: 22,018,974 (GRCm39)	K590*	probably null	Het
Slc39a12	T	C	2: 14,456,803 (GRCm39)	V597A	probably benign	Het
Slc45a3	G	A	1: 131,905,262 (GRCm39)	G81D	probably damaging	Het
Spata2l	T	C	8: 123,960,041 (GRCm39)	N416S	probably benign	Het
Tdrd6	A	C	17: 43,938,000 (GRCm39)	V1016G	possibly damaging	Het
Tet2	A	G	3: 133,191,641 (GRCm39)	V931A	probably benign	Het
Tmem190	A	G	7: 4,787,120 (GRCm39)	D108G	probably damaging	Het
Trip11	T	A	12: 101,850,651 (GRCm39)	K853*	probably null	Het
Vmn2r111	A	T	17: 22,788,042 (GRCm39)	D436E	probably benign	Het
Zfp704	A	T	3: 9,536,099 (GRCm39)	S140R	probably damaging	Het

Other mutations in Shc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Shc2	APN	10	79,456,903 (GRCm39)	missense	probably damaging	1.00
IGL01586:Shc2	APN	10	79,458,138 (GRCm39)	missense	probably damaging	0.99
IGL01965:Shc2	APN	10	79,463,023 (GRCm39)	splice site	probably benign
IGL02149:Shc2	APN	10	79,458,102 (GRCm39)	missense	probably damaging	1.00
IGL02252:Shc2	APN	10	79,462,204 (GRCm39)	missense	probably benign	0.00
shrine	UTSW	10	79,465,751 (GRCm39)	missense	probably damaging	0.99
R0538:Shc2	UTSW	10	79,465,974 (GRCm39)	splice site	probably benign
R0630:Shc2	UTSW	10	79,461,975 (GRCm39)	splice site	probably null
R0894:Shc2	UTSW	10	79,465,751 (GRCm39)	missense	probably damaging	0.99
R1166:Shc2	UTSW	10	79,456,946 (GRCm39)	missense	probably damaging	1.00
R1339:Shc2	UTSW	10	79,462,250 (GRCm39)	missense	probably benign	0.00
R1465:Shc2	UTSW	10	79,467,136 (GRCm39)	missense	probably damaging	1.00
R1465:Shc2	UTSW	10	79,467,136 (GRCm39)	missense	probably damaging	1.00
R1648:Shc2	UTSW	10	79,461,945 (GRCm39)	missense	probably benign
R1959:Shc2	UTSW	10	79,462,625 (GRCm39)	splice site	probably null
R3800:Shc2	UTSW	10	79,462,707 (GRCm39)	missense	probably benign	0.40
R4603:Shc2	UTSW	10	79,459,690 (GRCm39)	missense	probably benign	0.03
R4635:Shc2	UTSW	10	79,462,120 (GRCm39)	missense	probably benign	0.35
R4656:Shc2	UTSW	10	79,457,003 (GRCm39)	missense	probably damaging	1.00
R4715:Shc2	UTSW	10	79,458,213 (GRCm39)	missense	probably benign	0.01
R4841:Shc2	UTSW	10	79,458,295 (GRCm39)	missense	probably damaging	0.98
R4842:Shc2	UTSW	10	79,458,295 (GRCm39)	missense	probably damaging	0.98
R5057:Shc2	UTSW	10	79,459,706 (GRCm39)	missense	probably benign	0.01
R5394:Shc2	UTSW	10	79,465,933 (GRCm39)	missense	probably damaging	1.00
R6153:Shc2	UTSW	10	79,465,752 (GRCm39)	missense	possibly damaging	0.90
R6160:Shc2	UTSW	10	79,462,853 (GRCm39)	critical splice donor site	probably null
R6178:Shc2	UTSW	10	79,465,954 (GRCm39)	missense	probably damaging	1.00
R8773:Shc2	UTSW	10	79,456,924 (GRCm39)	missense	probably damaging	1.00
R8824:Shc2	UTSW	10	79,473,536 (GRCm39)	missense	probably benign
R8841:Shc2	UTSW	10	79,458,150 (GRCm39)	missense	probably damaging	1.00
R9081:Shc2	UTSW	10	79,462,762 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACACACAGTGCTTCACTGGGAAC -3'
(R):5'- GCTCTAACGTACATGCCTTGCTCTG -3'

Sequencing Primer
(F):5'- AACAGGGTGGAGCCTGC -3'
(R):5'- AGATGATGACGCTGCTGC -3'

Posted On

2014-04-24