Mutagenetix > Incidental Mutation

Incidental Mutation 'R6106:Calhm2'

485538

Institutional Source

Beutler Lab

Gene Symbol

Calhm2

Ensembl Gene

ENSMUSG00000033033

Gene Name

calcium homeostasis modulator family member 2

Synonyms

2810048G17Rik

MMRRC Submission

044256-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6106 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47120671-47126733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47121501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 223 (Y223N)

Ref Sequence

ENSEMBL: ENSMUSP00000121661 (fasta)

Gene Model

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

AlphaFold

Q8VEC4

Predicted Effect

probably damaging
Transcript: ENSMUST00000035822
AA Change: Y223N

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

SMART Domains

Protein: ENSMUSP00000047278
Gene: ENSMUSG00000033033
AA Change: Y223N

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: Y223N

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

SMART Domains

Protein: ENSMUSP00000121661
Gene: ENSMUSG00000033033
AA Change: Y223N

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	A	G	11: 105,879,838 (GRCm39)	E726G	probably damaging	Het
Adgrl4	A	G	3: 151,246,622 (GRCm39)	I641V	possibly damaging	Het
Apoa5	A	T	9: 46,181,931 (GRCm39)	R336*	probably null	Het
Bfsp2	T	A	9: 103,357,023 (GRCm39)	T135S	probably benign	Het
Ccdc158	T	C	5: 92,775,325 (GRCm39)	E960G	probably benign	Het
Ccdc80	T	C	16: 44,917,073 (GRCm39)	S610P	probably benign	Het
Cdon	T	A	9: 35,366,704 (GRCm39)	Y193*	probably null	Het
Cept1	A	T	3: 106,410,992 (GRCm39)	H400Q	probably benign	Het
Cfap144	T	C	11: 58,687,427 (GRCm39)	E66G	probably damaging	Het
Clspn	T	A	4: 126,484,434 (GRCm39)	N1197K	probably benign	Het
Cnot8	T	C	11: 58,004,816 (GRCm39)	S172P	probably damaging	Het
Col14a1	T	C	15: 55,383,404 (GRCm39)	I1794T	probably damaging	Het
Cracdl	T	C	1: 37,652,493 (GRCm39)	T1105A	possibly damaging	Het
Fam193a	A	T	5: 34,616,374 (GRCm39)	T564S	possibly damaging	Het
Galnt1	G	A	18: 24,387,720 (GRCm39)	V154I	probably benign	Het
Gstcd	C	A	3: 132,704,675 (GRCm39)	E526D	probably benign	Het
Ighv1-42	A	C	12: 114,900,907 (GRCm39)	S59R	probably benign	Het
Morn3	A	G	5: 123,184,823 (GRCm39)	C6R	possibly damaging	Het
Nrdc	A	T	4: 108,901,782 (GRCm39)	K617M	probably damaging	Het
Or2aj4	A	G	16: 19,385,009 (GRCm39)	L208P	probably damaging	Het
Or51ai2	A	G	7: 103,587,400 (GRCm39)	H271R	probably benign	Het
Or8b36	T	A	9: 37,937,762 (GRCm39)	I220N	probably damaging	Het
Or8b49	T	C	9: 38,506,252 (GRCm39)	M245T	probably benign	Het
Pcdhb11	A	G	18: 37,556,056 (GRCm39)	N462S	probably damaging	Het
Pfpl	G	T	19: 12,406,825 (GRCm39)	D359Y	probably damaging	Het
Phyhip	T	C	14: 70,699,299 (GRCm39)	V34A	probably benign	Het
Pigu	A	T	2: 155,139,116 (GRCm39)	I313N	possibly damaging	Het
Plch1	C	T	3: 63,609,444 (GRCm39)	R912H	probably damaging	Het
Psg16	T	A	7: 16,829,091 (GRCm39)	F225Y	possibly damaging	Het
Setdb2	T	A	14: 59,660,898 (GRCm39)	K82*	probably null	Het
Sgms1	A	G	19: 32,101,825 (GRCm39)	S394P	possibly damaging	Het
Slc16a1	T	C	3: 104,560,310 (GRCm39)	L205P	probably benign	Het
Slc19a1	T	A	10: 76,880,603 (GRCm39)	I380N	probably damaging	Het
Snx32	A	G	19: 5,548,042 (GRCm39)	I131T	probably benign	Het
Sorbs3	T	C	14: 70,430,053 (GRCm39)		probably null	Het
Stc2	T	A	11: 31,310,392 (GRCm39)	I215L	probably benign	Het
Tln2	C	T	9: 67,230,302 (GRCm39)	A84T	probably damaging	Het
Tomm34	A	G	2: 163,902,911 (GRCm39)	M133T	probably benign	Het
Usp43	A	G	11: 67,770,733 (GRCm39)	S634P	probably benign	Het
Vmn2r59	T	A	7: 41,661,749 (GRCm39)	R689*	probably null	Het
Vmn2r9	C	T	5: 108,992,902 (GRCm39)	R536Q	probably benign	Het
Wdr24	C	T	17: 26,043,579 (GRCm39)	H134Y	probably benign	Het
Zfhx2	T	A	14: 55,305,767 (GRCm39)		probably null	Het
Zfp1004	A	G	2: 150,034,725 (GRCm39)	K349E	probably damaging	Het
Zfp608	G	T	18: 55,120,944 (GRCm39)	H214Q	possibly damaging	Het
Zfp619	T	C	7: 39,184,558 (GRCm39)	V196A	probably benign	Het

Other mutations in Calhm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02551:Calhm2	APN	19	47,121,539 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGATAGCGTTCCACTGTGG -3'
(R):5'- AAGTGTGCTTGCCCACAGAG -3'

Sequencing Primer
(F):5'- TTCCACTGTGGCCGTGG -3'
(R):5'- GCTTGCCCACAGAGCAGAAG -3'

Posted On

2017-08-16