Mutagenetix > Incidental Mutation

Incidental Mutation 'R9095:Golm2'

691260

Institutional Source

Beutler Lab

Gene Symbol

Golm2

Ensembl Gene

ENSMUSG00000060227

Gene Name

golgi membrane protein 2

Synonyms

D130060C09Rik, Casc4

MMRRC Submission

068910-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9095 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121697451-121766701 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121756096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 375 (L375Q)

Ref Sequence

ENSEMBL: ENSMUSP00000077811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078752] [ENSMUST00000089912] [ENSMUST00000089915] [ENSMUST00000110586] [ENSMUST00000136023]

AlphaFold

Q6P2L7

Predicted Effect

probably damaging
Transcript: ENSMUST00000078752
AA Change: L375Q

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

SMART Domains

Protein: ENSMUSP00000077811
Gene: ENSMUSG00000060227
AA Change: L375Q

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
coiled coil region	37	195	N/A	INTRINSIC
low complexity region	400	418	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000089912
AA Change: L342Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087357
Gene: ENSMUSG00000060227
AA Change: L342Q

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
coiled coil region	37	195	N/A	INTRINSIC
low complexity region	367	385	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089915

SMART Domains

Protein: ENSMUSP00000087360
Gene: ENSMUSG00000060227

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
coiled coil region	37	195	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110586

SMART Domains

Protein: ENSMUSP00000106216
Gene: ENSMUSG00000060227

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
coiled coil region	37	195	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136023

SMART Domains

Protein: ENSMUSP00000117883
Gene: ENSMUSG00000060227

Domain	Start	End	E-Value	Type
coiled coil region	2	83	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The increased expression level of this gene is associated with HER-2/neu proto-oncogene overexpression. Amplification and resulting overexpression of this proto-oncogene are found in approximately 30% of human breast and 20% of human ovarian cancers. Alternatively spliced variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	T	17: 24,500,370 (GRCm39)	V1274M	probably damaging	Het
Abca4	A	G	3: 121,967,556 (GRCm39)	H2202R	possibly damaging	Het
Ablim3	A	G	18: 61,953,463 (GRCm39)	L350P	probably benign	Het
Adamts17	C	T	7: 66,654,117 (GRCm39)	T449I	probably damaging	Het
Ankrd39	T	A	1: 36,586,241 (GRCm39)	D9V	probably benign	Het
Arhgef7	T	C	8: 11,835,819 (GRCm39)	V192A	probably damaging	Het
Art4	C	T	6: 136,834,269 (GRCm39)		probably benign	Het
Atg4a-ps	A	T	3: 103,553,254 (GRCm39)	V29E	possibly damaging	Het
Ccdc180	A	T	4: 45,949,466 (GRCm39)	K1574*	probably null	Het
Cfap54	T	G	10: 92,846,882 (GRCm39)	T1028P	probably damaging	Het
Clip2	C	T	5: 134,532,254 (GRCm39)	R517H	possibly damaging	Het
Col5a1	A	G	2: 27,914,665 (GRCm39)	T94A	probably benign	Het
Cpne1	T	A	2: 155,918,210 (GRCm39)		probably null	Het
Csnk2a1-ps3	A	T	1: 156,352,213 (GRCm39)	Y138F	probably benign	Het
Cyp2f2	T	A	7: 26,830,667 (GRCm39)	M346K	possibly damaging	Het
D130040H23Rik	AAGAATATATTCTACAGAATATA	AAGAATATA	8: 69,755,748 (GRCm39)		probably null	Het
Ddi2	T	A	4: 141,419,590 (GRCm39)	I387F	probably benign	Het
Dsg1b	A	G	18: 20,523,282 (GRCm39)	N103S	probably damaging	Het
Duxf3	GCCC	GCC	10: 58,066,944 (GRCm39)		probably null	Het
Dysf	A	G	6: 84,156,666 (GRCm39)	I1464V	probably benign	Het
Epha2	A	G	4: 141,044,012 (GRCm39)	Y314C	possibly damaging	Het
Etl4	A	G	2: 20,782,964 (GRCm39)	E675G	probably damaging	Het
Fam114a1	A	C	5: 65,188,733 (GRCm39)	I488L	probably benign	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fn1	A	C	1: 71,647,149 (GRCm39)	I1547S	probably null	Het
Garre1	A	T	7: 33,956,770 (GRCm39)		probably null	Het
Get1	T	A	16: 95,954,244 (GRCm39)		probably benign	Het
Gm14305	T	A	2: 176,413,045 (GRCm39)	Y312*	probably null	Het
Gpihbp1	A	G	15: 75,469,641 (GRCm39)	T119A	possibly damaging	Het
Harbi1	T	G	2: 91,542,980 (GRCm39)	V147G	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,899 (GRCm39)	Y186C	probably damaging	Het
Ighv13-2	C	A	12: 114,321,494 (GRCm39)	A82S	probably benign	Het
Itpr1	T	A	6: 108,364,352 (GRCm39)	D827E	probably benign	Het
Krtap4-2	C	T	11: 99,525,801 (GRCm39)	G17D	unknown	Het
Ly6a	A	T	15: 74,867,333 (GRCm39)		probably benign	Het
Mad1l1	C	T	5: 140,288,741 (GRCm39)	E203K	probably damaging	Het
Mapk14	C	A	17: 28,934,413 (GRCm39)	D101E	probably benign	Het
Meis3	G	T	7: 15,917,764 (GRCm39)	G306W	probably damaging	Het
Mixl1	T	C	1: 180,524,402 (GRCm39)	D59G	probably benign	Het
Nav2	G	A	7: 49,254,293 (GRCm39)	V2364M	probably damaging	Het
Nell1	T	C	7: 50,506,150 (GRCm39)	S786P	possibly damaging	Het
Or13a25	T	G	7: 140,247,813 (GRCm39)	N197K	probably damaging	Het
Or51e2	C	A	7: 102,391,473 (GRCm39)	V246L	possibly damaging	Het
Or51g1	A	G	7: 102,633,687 (GRCm39)	L228P	probably damaging	Het
Or5b107	T	G	19: 13,143,310 (GRCm39)	S311A	probably benign	Het
Pcdhgb8	A	T	18: 37,896,052 (GRCm39)	D374V	probably damaging	Het
Phactr2	A	G	10: 13,129,386 (GRCm39)	I294T	probably benign	Het
Plekha4	C	T	7: 45,190,492 (GRCm39)	A400V	probably damaging	Het
Pramel21	T	C	4: 143,341,760 (GRCm39)	F63S	probably damaging	Het
Pramel4	C	A	4: 143,794,928 (GRCm39)	D441E	probably benign	Het
Prr12	G	A	7: 44,695,267 (GRCm39)	P1400S	unknown	Het
Prss3b	T	A	6: 41,010,038 (GRCm39)	N99Y	possibly damaging	Het
Rbm6	G	A	9: 107,669,089 (GRCm39)	Q608*	probably null	Het
Scamp1	T	A	13: 94,369,598 (GRCm39)	I76F	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sirt1	A	T	10: 63,158,077 (GRCm39)	S446T	probably damaging	Het
Slc25a54	A	G	3: 109,019,404 (GRCm39)	K336R	probably benign	Het
Spag17	G	T	3: 99,912,092 (GRCm39)	V321F	possibly damaging	Het
Sstr1	A	G	12: 58,259,620 (GRCm39)	Y81C	probably damaging	Het
St8sia4	T	C	1: 95,519,525 (GRCm39)	K321R	probably damaging	Het
Stac3	T	C	10: 127,343,584 (GRCm39)	F242S	probably damaging	Het
Tanc2	T	G	11: 105,758,104 (GRCm39)	S622A	probably benign	Het
Tcf4	G	A	18: 69,598,464 (GRCm39)	D106N	possibly damaging	Het
Tfrc	T	A	16: 32,433,571 (GRCm39)	I75N	possibly damaging	Het
Tigd2	G	A	6: 59,187,509 (GRCm39)	W125*	probably null	Het
Tjp1	T	C	7: 64,952,745 (GRCm39)	T1530A	possibly damaging	Het
Tmem132a	T	A	19: 10,844,412 (GRCm39)	H62L	probably benign	Het
Tmem89	T	C	9: 108,743,729 (GRCm39)	S10P	unknown	Het
Trrap	C	T	5: 144,733,961 (GRCm39)	P938L	probably damaging	Het
Unc80	C	A	1: 66,545,912 (GRCm39)	P488T	probably damaging	Het
Uri1	C	A	7: 37,662,873 (GRCm39)	G374C	probably damaging	Het
Utp20	T	C	10: 88,611,180 (GRCm39)	N1379S	probably damaging	Het
Vcan	G	T	13: 89,852,644 (GRCm39)	T772K	probably benign	Het
Zbtb37	A	T	1: 160,847,941 (GRCm39)	Y355*	probably null	Het
Zfp3	A	G	11: 70,662,405 (GRCm39)	I121M	probably benign	Het
Zfp629	A	T	7: 127,209,547 (GRCm39)	L754Q	probably damaging	Het

Other mutations in Golm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Golm2	APN	2	121,741,274 (GRCm39)	splice site	probably benign
IGL01020:Golm2	APN	2	121,756,203 (GRCm39)	missense	probably benign	0.06
IGL01794:Golm2	APN	2	121,742,407 (GRCm39)	missense	probably benign	0.36
IGL02429:Golm2	APN	2	121,742,468 (GRCm39)	missense	probably benign	0.00
R0126:Golm2	UTSW	2	121,736,565 (GRCm39)	splice site	probably benign
R0709:Golm2	UTSW	2	121,697,906 (GRCm39)	missense	probably damaging	1.00
R2182:Golm2	UTSW	2	121,697,909 (GRCm39)	missense	probably damaging	1.00
R4771:Golm2	UTSW	2	121,756,126 (GRCm39)	missense	probably damaging	1.00
R5533:Golm2	UTSW	2	121,756,178 (GRCm39)	intron	probably benign
R5817:Golm2	UTSW	2	121,736,525 (GRCm39)	missense	probably benign	0.30
R6519:Golm2	UTSW	2	121,737,218 (GRCm39)	missense	probably benign	0.31
R6598:Golm2	UTSW	2	121,763,967 (GRCm39)	missense	probably damaging	1.00
R6598:Golm2	UTSW	2	121,763,966 (GRCm39)	missense	probably damaging	1.00
R7799:Golm2	UTSW	2	121,764,022 (GRCm39)	missense	probably benign	0.01
R8009:Golm2	UTSW	2	121,737,242 (GRCm39)	missense	probably benign	0.00
R8359:Golm2	UTSW	2	121,697,632 (GRCm39)	start gained	probably benign
R8360:Golm2	UTSW	2	121,697,632 (GRCm39)	start gained	probably benign
R8995:Golm2	UTSW	2	121,756,199 (GRCm39)	missense	probably damaging	1.00
R9620:Golm2	UTSW	2	121,737,242 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCAGTACCCTGAAAGTTGC -3'
(R):5'- ATGACACAGAACCTCTTGAGTTAAG -3'

Sequencing Primer
(F):5'- ACCCTGAAAGTTGCTGGGTTTC -3'
(R):5'- GATTACAAGTGGGGAAAATTCTACAC -3'

Posted On

2021-12-30