Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02551:Calhm2'

298091

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Calhm2

Ensembl Gene

ENSMUSG00000033033

Gene Name

calcium homeostasis modulator family member 2

Synonyms

2810048G17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

47120671-47126733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 47121539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 210 (S210L)

Ref Sequence

ENSEMBL: ENSMUSP00000121661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035822] [ENSMUST00000072141] [ENSMUST00000140512]

AlphaFold

Q8VEC4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035822
AA Change: S210L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047278
Gene: ENSMUSG00000033033
AA Change: S210L

Domain	Start	End	E-Value	Type
Pfam:Ca_hom_mod	6	256	2.3e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072141

SMART Domains

Protein: ENSMUSP00000072008
Gene: ENSMUSG00000025047

Domain	Start	End	E-Value	Type
low complexity region	53	76	N/A	INTRINSIC
S1	81	171	1.05e-7	SMART
S1	185	258	2.32e-9	SMART
S1	279	346	1.44e-5	SMART
S1	363	436	8.55e-8	SMART
S1	451	522	3.89e-20	SMART
S1	540	611	1.14e-17	SMART
S1	634	707	2.76e-2	SMART
S1	727	798	2.02e-18	SMART
low complexity region	813	823	N/A	INTRINSIC
S1	844	911	6.13e0	SMART
Blast:S1	923	993	8e-39	BLAST
low complexity region	1018	1032	N/A	INTRINSIC
S1	1045	1120	1.3e-7	SMART
S1	1158	1233	6.09e-4	SMART
S1	1239	1309	4.14e-6	SMART
S1	1333	1407	1.57e-6	SMART
low complexity region	1433	1473	N/A	INTRINSIC
coiled coil region	1557	1588	N/A	INTRINSIC
HAT	1591	1622	6.53e2	SMART
HAT	1624	1661	4.12e1	SMART
HAT	1663	1694	3.49e2	SMART
HAT	1696	1728	3.18e-1	SMART
HAT	1730	1764	2.25e2	SMART
HAT	1766	1798	8.52e-2	SMART
HAT	1800	1835	1.33e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000140512
AA Change: S210L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121661
Gene: ENSMUSG00000033033
AA Change: S210L

Domain	Start	End	E-Value	Type
Pfam:Ca_hom_mod	6	258	2.9e-93	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	G	A	1: 158,796,618 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,975,068 (GRCm39)	I109V	probably benign	Het
Acsm2	C	T	7: 119,172,507 (GRCm39)	P117S	probably damaging	Het
Adamts18	C	A	8: 114,425,704 (GRCm39)	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,666,926 (GRCm39)	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,370,802 (GRCm39)	T694A	probably damaging	Het
Adgra2	G	A	8: 27,609,250 (GRCm39)	V609I	probably benign	Het
Agbl3	A	G	6: 34,800,006 (GRCm39)	K638R	possibly damaging	Het
Alpk2	T	A	18: 65,505,822 (GRCm39)	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,554,599 (GRCm39)	I245N	probably damaging	Het
Aqp9	A	G	9: 71,039,922 (GRCm39)	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,579,553 (GRCm39)	E465G	probably damaging	Het
Btrc	G	T	19: 45,411,573 (GRCm39)	C31F	possibly damaging	Het
Cnksr3	C	A	10: 7,102,912 (GRCm39)	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686 (GRCm39)	S25P	probably benign	Het
Dnajc6	T	A	4: 101,496,550 (GRCm39)	W838R	probably damaging	Het
Fam78a	T	A	2: 31,959,568 (GRCm39)	T181S	probably damaging	Het
Fat1	A	G	8: 45,504,435 (GRCm39)	T4600A	probably damaging	Het
Fbxo31	A	T	8: 122,293,083 (GRCm39)	Y101N	probably damaging	Het
Glmp	A	G	3: 88,232,389 (GRCm39)	M1V	probably null	Het
Gsdmc	T	A	15: 63,673,782 (GRCm39)	T168S	probably benign	Het
Has1	C	T	17: 18,068,560 (GRCm39)	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,344,823 (GRCm39)	D4670G	possibly damaging	Het
Kcnj4	C	T	15: 79,369,103 (GRCm39)	M292I	probably benign	Het
Kmo	A	T	1: 175,465,485 (GRCm39)	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,961,414 (GRCm39)	T608I	possibly damaging	Het
Mical2	A	T	7: 111,923,197 (GRCm39)	N635I	probably benign	Het
Nags	T	C	11: 102,038,767 (GRCm39)	S403P	probably damaging	Het
Nalcn	T	A	14: 123,560,750 (GRCm39)	I776F	probably benign	Het
Ncan	A	T	8: 70,555,112 (GRCm39)	N1018K	probably damaging	Het
Notch3	T	A	17: 32,373,705 (GRCm39)		probably benign	Het
Nup93	C	T	8: 94,954,461 (GRCm39)	Q53*	probably null	Het
Pdk2	T	A	11: 94,919,412 (GRCm39)	M288L	probably benign	Het
Pkd1	A	G	17: 24,792,789 (GRCm39)	Y1492C	probably damaging	Het
Pla2g12b	T	A	10: 59,239,692 (GRCm39)	W34R	probably damaging	Het
Pla2g6	T	A	15: 79,183,294 (GRCm39)	D511V	possibly damaging	Het
Plin2	C	A	4: 86,576,929 (GRCm39)	M265I	probably benign	Het
Ppp6c	A	T	2: 39,096,669 (GRCm39)	F78I	probably damaging	Het
Prop1	A	T	11: 50,841,773 (GRCm39)	M211K	possibly damaging	Het
Prr14l	T	A	5: 32,988,828 (GRCm39)	E222D	probably damaging	Het
Rtkn	A	T	6: 83,128,905 (GRCm39)	I454F	probably damaging	Het
Serinc2	T	C	4: 130,154,567 (GRCm39)	I226V	probably benign	Het
Sh3bp1	T	A	15: 78,788,538 (GRCm39)	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,266,493 (GRCm39)	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,240,136 (GRCm39)		probably benign	Het
Spg7	G	A	8: 123,803,717 (GRCm39)	G249E	probably damaging	Het
Tbc1d2	T	C	4: 46,649,916 (GRCm39)	D40G	probably benign	Het
Tmcc2	A	G	1: 132,285,317 (GRCm39)	L683P	probably damaging	Het
Triobp	T	C	15: 78,857,689 (GRCm39)	S1097P	probably benign	Het
Tspan9	T	C	6: 127,942,726 (GRCm39)	D167G	probably null	Het
Ttll6	T	C	11: 96,045,526 (GRCm39)	I581T	probably benign	Het
Usp29	A	G	7: 6,966,352 (GRCm39)		probably null	Het
Vgll4	A	G	6: 114,839,254 (GRCm39)	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,003,100 (GRCm39)	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,437,930 (GRCm39)	T185A	probably benign	Het
Vwce	A	G	19: 10,622,400 (GRCm39)	H234R	possibly damaging	Het
Zfp292	T	C	4: 34,806,462 (GRCm39)	E2194G	possibly damaging	Het

Other mutations in Calhm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0373:Calhm2	UTSW	19	47,121,389 (GRCm39)	missense	possibly damaging	0.84
R0601:Calhm2	UTSW	19	47,129,469 (GRCm39)	splice site	probably null
R0729:Calhm2	UTSW	19	47,121,356 (GRCm39)	missense	possibly damaging	0.51
R5451:Calhm2	UTSW	19	47,121,314 (GRCm39)	missense	possibly damaging	0.76
R5626:Calhm2	UTSW	19	47,121,558 (GRCm39)	missense	probably damaging	0.96
R6106:Calhm2	UTSW	19	47,121,501 (GRCm39)	missense	probably damaging	1.00
R7145:Calhm2	UTSW	19	47,124,080 (GRCm39)	missense	probably benign	0.42
R7919:Calhm2	UTSW	19	47,121,447 (GRCm39)	missense	possibly damaging	0.89
R8407:Calhm2	UTSW	19	47,098,755 (GRCm39)	nonsense	probably null
R8422:Calhm2	UTSW	19	47,121,579 (GRCm39)	missense	probably benign
R9093:Calhm2	UTSW	19	47,121,599 (GRCm39)	missense	probably benign	0.44
R9215:Calhm2	UTSW	19	47,121,305 (GRCm39)	missense	possibly damaging	0.62
R9405:Calhm2	UTSW	19	47,124,108 (GRCm39)	missense	probably benign	0.12
R9736:Calhm2	UTSW	19	47,121,597 (GRCm39)	missense	probably benign	0.25
X0028:Calhm2	UTSW	19	47,121,458 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16