Mutagenetix > Incidental Mutation

Incidental Mutation 'R9620:Golm2'

724695

Institutional Source

Beutler Lab

Gene Symbol

Golm2

Ensembl Gene

ENSMUSG00000060227

Gene Name

golgi membrane protein 2

Synonyms

D130060C09Rik, Casc4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9620 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121697451-121766701 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121737242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 261 (V261A)

Ref Sequence

ENSEMBL: ENSMUSP00000077811 (fasta)

Gene Model

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

AlphaFold

Q6P2L7

Predicted Effect

probably benign
Transcript: ENSMUST00000078752
AA Change: V261A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000077811
Gene: ENSMUSG00000060227
AA Change: V261A

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 benign
Transcript: ENSMUST00000089912
AA Change: V261A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000087357
Gene: ENSMUSG00000060227
AA Change: V261A

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
AA Change: V261A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000087360
Gene: ENSMUSG00000060227
AA Change: V261A

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
AA Change: V261A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106216
Gene: ENSMUSG00000060227
AA Change: V261A

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
AA Change: V149A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000117883
Gene: ENSMUSG00000060227
AA Change: V149A

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

Meta Mutation Damage Score

0.0630

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	G	T	18: 10,704,605 (GRCm39)	T151K	possibly damaging	Het
Acsf2	C	T	11: 94,463,412 (GRCm39)	W130*	probably null	Het
Aldh16a1	G	A	7: 44,797,413 (GRCm39)	R132*	probably null	Het
Amer3	C	T	1: 34,628,043 (GRCm39)	P761S	probably benign	Het
Amotl1	G	T	9: 14,459,969 (GRCm39)	D886E	probably damaging	Het
Cacna1s	T	C	1: 136,035,909 (GRCm39)	F1383S	probably damaging	Het
Col14a1	T	A	15: 55,225,781 (GRCm39)	V148E	unknown	Het
Col9a2	T	A	4: 120,910,403 (GRCm39)		probably null	Het
Cyp2a5	T	A	7: 26,536,636 (GRCm39)	M205K	possibly damaging	Het
Dcst2	A	T	3: 89,277,825 (GRCm39)	Q466L	possibly damaging	Het
Ecel1	T	C	1: 87,080,853 (GRCm39)	I350V	possibly damaging	Het
Enthd1	G	A	15: 80,336,901 (GRCm39)	T511I	probably benign	Het
Exoc6b	T	A	6: 84,988,302 (GRCm39)	K92*	probably null	Het
Fam181a	T	G	12: 103,282,591 (GRCm39)	Y165*	probably null	Het
Fbxo34	A	G	14: 47,768,725 (GRCm39)	Y746C	probably damaging	Het
Fgfr4	T	A	13: 55,308,994 (GRCm39)	S372T	possibly damaging	Het
Fmo1	A	G	1: 162,661,390 (GRCm39)	F298L	probably benign	Het
Gad1	A	C	2: 70,404,620 (GRCm39)	D170A	possibly damaging	Het
Garin2	A	C	12: 78,762,077 (GRCm39)	D247A	probably damaging	Het
Golgb1	T	C	16: 36,739,811 (GRCm39)	S2758P	probably benign	Het
H2az2	A	T	11: 6,379,094 (GRCm39)		probably null	Het
Ilkap	A	G	1: 91,303,973 (GRCm39)	C163R		Het
Krt9	A	T	11: 100,079,186 (GRCm39)	D735E	unknown	Het
Lipo3	A	T	19: 33,559,629 (GRCm39)	C80*	probably null	Het
Lpcat3	C	T	6: 124,680,543 (GRCm39)	P478L	probably damaging	Het
Luc7l3	G	A	11: 94,212,545 (GRCm39)	R24C	unknown	Het
Mafa	T	A	15: 75,619,161 (GRCm39)	H204L	probably benign	Het
Mapk10	A	C	5: 103,114,473 (GRCm39)	V305G	probably damaging	Het
Mgat1	T	C	11: 49,152,122 (GRCm39)	F202L	probably benign	Het
Mical2	A	T	7: 111,980,403 (GRCm39)	T126S	probably benign	Het
Mill1	G	A	7: 17,997,027 (GRCm39)	R206H	probably benign	Het
Nlrc5	A	T	8: 95,203,034 (GRCm39)	Y378F	probably benign	Het
Nlrp9a	G	T	7: 26,250,469 (GRCm39)	R78L	probably damaging	Het
Or10b1	G	T	10: 78,356,128 (GRCm39)	A229S	probably benign	Het
Or52i2	A	T	7: 102,320,011 (GRCm39)	I295F	possibly damaging	Het
Or8g50	A	T	9: 39,648,287 (GRCm39)	M59L		Het
Orc6	A	T	8: 86,026,430 (GRCm39)		probably benign	Het
Pate14	A	G	9: 36,548,498 (GRCm39)		probably null	Het
Pcdhgb5	C	T	18: 37,864,486 (GRCm39)	Q94*	probably null	Het
Pcnx1	A	G	12: 81,996,960 (GRCm39)	D952G	probably damaging	Het
Ppfia2	A	T	10: 106,749,519 (GRCm39)	H1135L		Het
Prmt2	A	T	10: 76,061,213 (GRCm39)	I91N	probably damaging	Het
Ptprm	A	G	17: 67,116,484 (GRCm39)	Y932H	probably damaging	Het
Qrich2	T	C	11: 116,337,946 (GRCm39)	K154R	probably damaging	Het
Rapgef4	A	G	2: 72,036,051 (GRCm39)	T515A	probably benign	Het
Rgmb	G	A	17: 16,041,279 (GRCm39)	R103*	probably null	Het
Ripk1	T	G	13: 34,210,806 (GRCm39)	S334A	possibly damaging	Het
Rnf5	C	T	17: 34,820,721 (GRCm39)	G147S	possibly damaging	Het
Ryr1	T	C	7: 28,715,138 (GRCm39)	Y4662C	unknown	Het
Secisbp2l	A	G	2: 125,589,394 (GRCm39)	M718T	probably damaging	Het
Slc16a6	T	C	11: 109,354,322 (GRCm39)	T100A	probably benign	Het
Slc27a6	T	A	18: 58,742,887 (GRCm39)	M525K	probably damaging	Het
Slco2a1	G	C	9: 102,962,065 (GRCm39)	C579S	probably damaging	Het
Snx14	A	G	9: 88,263,794 (GRCm39)	S864P	probably damaging	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Sptbn2	T	C	19: 4,800,535 (GRCm39)	L2250P	probably damaging	Het
Tlr6	A	T	5: 65,112,146 (GRCm39)	S254T	possibly damaging	Het
Trap1	A	T	16: 3,858,083 (GRCm39)	Y675*	probably null	Het
Ttc9b	C	A	7: 27,353,512 (GRCm39)	A54E	probably damaging	Het
Unc45a	A	C	7: 79,975,403 (GRCm39)	Y934D	probably damaging	Het
Usp17ld	A	G	7: 102,900,179 (GRCm39)	L251P	possibly damaging	Het
Usp42	A	G	5: 143,703,154 (GRCm39)	V489A	probably damaging	Het
Vars1	A	G	17: 35,235,001 (GRCm39)	T1277A	unknown	Het
Vmn2r117	A	G	17: 23,697,450 (GRCm39)	S81P	probably damaging	Het
Vmn2r69	T	A	7: 85,061,504 (GRCm39)	I157F	probably benign	Het
Zfp697	A	G	3: 98,335,182 (GRCm39)	S316G	probably damaging	Het
Zfp729b	T	A	13: 67,739,787 (GRCm39)	H826L	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
R9095:Golm2	UTSW	2	121,756,096 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTGTTCACTTACAATCTGTGAC -3'
(R):5'- GGCAATTAATGAGCTGCACC -3'

Sequencing Primer
(F):5'- TGTTCACTTACAATCTGTGACATTAG -3'
(R):5'- CAGAGAATGGTGGTGCTCC -3'

Posted On

2022-09-12