Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Golm2'

62642

Institutional Source

Beutler Lab

Gene Symbol

Golm2

Ensembl Gene

ENSMUSG00000060227

Gene Name

golgi membrane protein 2

Synonyms

D130060C09Rik, Casc4

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0709 (G1)

Quality Score

131

Status

Validated

Chromosome

Chromosomal Location

121697451-121766701 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121697906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 74 (V74E)

Ref Sequence

ENSEMBL: ENSMUSP00000106216 (fasta)

Gene Model

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

AlphaFold

Q6P2L7

Predicted Effect

probably damaging
Transcript: ENSMUST00000078752
AA Change: V74E

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

SMART Domains

Protein: ENSMUSP00000077811
Gene: ENSMUSG00000060227
AA Change: V74E

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: V74E

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

SMART Domains

Protein: ENSMUSP00000087357
Gene: ENSMUSG00000060227
AA Change: V74E

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 damaging
Transcript: ENSMUST00000089915
AA Change: V74E

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

SMART Domains

Protein: ENSMUSP00000087360
Gene: ENSMUSG00000060227
AA Change: V74E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110586
AA Change: V74E

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

SMART Domains

Protein: ENSMUSP00000106216
Gene: ENSMUSG00000060227
AA Change: V74E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135416

Meta Mutation Damage Score

0.3279

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,436,358 (GRCm39)	D137V	probably damaging	Het
Aar2	C	T	2: 156,408,930 (GRCm39)	P378L	probably damaging	Het
Abcc5	A	T	16: 20,195,342 (GRCm39)	H718Q	possibly damaging	Het
Ace	G	T	11: 105,872,364 (GRCm39)	L319F	probably damaging	Het
Angpt4	C	A	2: 151,776,434 (GRCm39)	P321T	possibly damaging	Het
Atrip	T	C	9: 108,896,171 (GRCm39)	N282S	probably benign	Het
AW554918	A	C	18: 25,596,711 (GRCm39)	S525R	probably damaging	Het
Ccdc136	T	A	6: 29,414,969 (GRCm39)	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,200,719 (GRCm39)	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,863,127 (GRCm39)	H223R	probably benign	Het
Cd109	T	C	9: 78,579,260 (GRCm39)	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,790,616 (GRCm39)		probably benign	Het
Copb2	A	T	9: 98,445,220 (GRCm39)		probably benign	Het
Csrnp3	C	T	2: 65,852,907 (GRCm39)	S445L	probably damaging	Het
Cxcl13	G	T	5: 96,106,530 (GRCm39)	C34F	probably damaging	Het
Dars2	T	C	1: 160,874,498 (GRCm39)	E397G	probably benign	Het
Dlg5	C	T	14: 24,196,323 (GRCm39)	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,606,222 (GRCm39)		probably benign	Het
Eif4a1	C	A	11: 69,561,078 (GRCm39)	A76S	probably damaging	Het
Fam162b	T	A	10: 51,463,347 (GRCm39)	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,167,057 (GRCm39)	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359 (GRCm39)	F152L	probably damaging	Het
Galnt2	G	A	8: 125,070,085 (GRCm39)	G534D	probably benign	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Gprc5a	T	A	6: 135,055,948 (GRCm39)	S132T	probably damaging	Het
Hk3	G	A	13: 55,162,543 (GRCm39)	R47C	probably damaging	Het
Hrnr	A	T	3: 93,239,815 (GRCm39)	Q3351L	unknown	Het
Icam1	T	A	9: 20,930,423 (GRCm39)	F92L	probably damaging	Het
Ifi213	C	T	1: 173,417,366 (GRCm39)	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,275,888 (GRCm39)		probably benign	Het
Irx3	A	G	8: 92,526,048 (GRCm39)	V487A	possibly damaging	Het
Kalrn	A	G	16: 33,855,924 (GRCm39)	V204A	probably damaging	Het
Krt16	T	C	11: 100,137,280 (GRCm39)		probably benign	Het
Loxhd1	G	A	18: 77,492,665 (GRCm39)	V1369I	probably benign	Het
Med13	T	A	11: 86,210,422 (GRCm39)	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,234,962 (GRCm39)	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,877,732 (GRCm39)	D461V	unknown	Het
Nek6	T	A	2: 38,447,858 (GRCm39)	S41T	probably damaging	Het
Nudt22	T	C	19: 6,970,874 (GRCm39)	E232G	probably damaging	Het
Numbl	C	A	7: 26,973,415 (GRCm39)	F192L	probably damaging	Het
Or4c105	C	T	2: 88,648,226 (GRCm39)	T237I	probably benign	Het
Or7g12	T	A	9: 18,899,422 (GRCm39)	I46K	probably damaging	Het
P2rx4	T	C	5: 122,852,467 (GRCm39)	V47A	probably damaging	Het
Phka1	T	A	X: 101,629,710 (GRCm39)	I478F	probably damaging	Het
Pkn2	G	A	3: 142,536,281 (GRCm39)	T200I	probably damaging	Het
Plcg1	T	A	2: 160,593,698 (GRCm39)		probably null	Het
Polg2	C	T	11: 106,659,239 (GRCm39)	G425R	probably damaging	Het
Ptprm	G	T	17: 67,251,327 (GRCm39)		probably null	Het
Reg1	G	A	6: 78,405,101 (GRCm39)	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,084,367 (GRCm39)	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,265,603 (GRCm39)	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,836,985 (GRCm39)	V28M	possibly damaging	Het
Snap29	A	G	16: 17,224,012 (GRCm39)	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,469 (GRCm39)		probably benign	Het
Sorcs3	G	A	19: 48,475,845 (GRCm39)	A235T	probably benign	Het
Sp100	T	A	1: 85,622,002 (GRCm39)	N362K	probably damaging	Het
Sqor	A	T	2: 122,641,775 (GRCm39)	I32F	probably benign	Het
Stx6	C	T	1: 155,069,040 (GRCm39)	R189C	probably damaging	Het
Tchp	T	C	5: 114,855,514 (GRCm39)	I298T	probably damaging	Het
Themis	A	G	10: 28,637,570 (GRCm39)	I225V	probably benign	Het
Timm50	A	T	7: 28,006,366 (GRCm39)	V245E	probably damaging	Het
Tnxb	A	G	17: 34,908,328 (GRCm39)	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,398,814 (GRCm39)	R205H	probably benign	Het
Tradd	T	C	8: 105,987,276 (GRCm39)	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,464,199 (GRCm39)	E37K	probably benign	Het
Ttn	T	C	2: 76,729,747 (GRCm39)		probably benign	Het
Ttr	A	T	18: 20,803,034 (GRCm39)		probably null	Het
Ubp1	A	G	9: 113,773,999 (GRCm39)	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,897,881 (GRCm39)	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,263,166 (GRCm39)	N98K	probably damaging	Het
Yipf5	A	G	18: 40,340,825 (GRCm39)	S176P	probably benign	Het
Zpbp2	C	T	11: 98,444,763 (GRCm39)	T97I	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
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
R9620:Golm2	UTSW	2	121,737,242 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTGGTAGTCATCGTCGTCCTTGC -3'
(R):5'- CTGACACCGGGAAAGTCTGACAAC -3'

Sequencing Primer
(F):5'- GCCTTCAACTACTGGAGCATC -3'
(R):5'- TCTGACAACAAACAGGGTTGC -3'

Posted On

2013-07-30