Mutagenetix > Incidental Mutation

Incidental Mutation 'R8407:Calhm2'

652508

Institutional Source

Beutler Lab

Gene Symbol

Calhm2

Ensembl Gene

ENSMUSG00000033033

Gene Name

calcium homeostasis modulator family member 2

Synonyms

2810048G17Rik

MMRRC Submission

067814-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47120671-47126733 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 47098755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 310 (Q310*)

Ref Sequence

ENSEMBL: ENSMUSP00000121661 (fasta)

Gene Model

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

AlphaFold

Q8VEC4

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 null
Transcript: ENSMUST00000140512
AA Change: Q310*

SMART Domains

Protein: ENSMUSP00000121661
Gene: ENSMUSG00000033033
AA Change: Q310*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	T	C	11: 100,384,897 (GRCm39)	I629V	possibly damaging	Het
Ahnak	C	T	19: 8,993,037 (GRCm39)	P4774S	probably benign	Het
Arhgef12	C	T	9: 42,937,475 (GRCm39)		probably null	Het
BC048562	T	A	9: 108,315,631 (GRCm39)	S12R	possibly damaging	Het
Celsr3	A	G	9: 108,706,256 (GRCm39)	E913G	probably damaging	Het
Cep68	T	C	11: 20,190,446 (GRCm39)	S189G	possibly damaging	Het
Cilp	C	A	9: 65,181,898 (GRCm39)	P336T	probably damaging	Het
Cnot4	A	G	6: 35,033,154 (GRCm39)	S288P	probably benign	Het
Cst13	T	C	2: 148,665,124 (GRCm39)	S40P	probably damaging	Het
Cyp4f37	A	T	17: 32,853,158 (GRCm39)	D374V	probably damaging	Het
Ddit3	A	G	10: 127,131,318 (GRCm39)	T37A	probably benign	Het
Dnah2	T	C	11: 69,350,104 (GRCm39)	N2343S	probably benign	Het
Emp3	G	A	7: 45,569,445 (GRCm39)	P32L	probably damaging	Het
Esyt1	G	T	10: 128,347,796 (GRCm39)	L965M	probably damaging	Het
Fbxw28	T	A	9: 109,155,269 (GRCm39)	I406L	probably benign	Het
Fgf10	A	G	13: 118,851,938 (GRCm39)	T7A	possibly damaging	Het
Frs3	A	T	17: 48,009,552 (GRCm39)	D11V	probably damaging	Het
Glmn	A	G	5: 107,718,057 (GRCm39)	S287P	probably benign	Het
Glyctk	C	T	9: 106,033,141 (GRCm39)	A291T	probably benign	Het
H2bc12	G	T	13: 22,220,217 (GRCm39)	G54V	probably damaging	Het
Ibtk	A	T	9: 85,603,119 (GRCm39)	F629I	possibly damaging	Het
Kcnh8	C	A	17: 53,212,101 (GRCm39)	A633E	probably damaging	Het
Kif24	T	C	4: 41,394,488 (GRCm39)	N929S	probably benign	Het
Ldlrap1	T	C	4: 134,484,736 (GRCm39)	K86R	probably damaging	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Lmod1	A	G	1: 135,291,763 (GRCm39)	K206R	probably benign	Het
Lmod1	C	A	1: 135,292,734 (GRCm39)	P530T	possibly damaging	Het
Lnp1	A	T	16: 56,748,251 (GRCm39)	S14T	probably benign	Het
Map3k6	T	A	4: 132,974,904 (GRCm39)	Y646N	possibly damaging	Het
Mapk14	G	A	17: 28,963,983 (GRCm39)	V290I	probably benign	Het
Mrpl22	C	A	11: 58,066,156 (GRCm39)	Y83*	probably null	Het
Myh6	T	C	14: 55,201,388 (GRCm39)	N104D	probably benign	Het
Nalcn	T	A	14: 123,554,683 (GRCm39)	M903L	probably damaging	Het
Nfat5	C	T	8: 108,094,047 (GRCm39)	Q763*	probably null	Het
Or5w19	A	C	2: 87,698,437 (GRCm39)	Y34S	probably damaging	Het
Plin1	T	C	7: 79,373,051 (GRCm39)	D306G	probably benign	Het
Ppp1r12a	T	A	10: 108,076,042 (GRCm39)		probably null	Het
Prelid1	T	A	13: 55,470,672 (GRCm39)	H33Q	probably damaging	Het
Prkcz	C	T	4: 155,352,673 (GRCm39)	A485T	probably damaging	Het
Ptch1	T	C	13: 63,662,057 (GRCm39)	E1169G	probably null	Het
Rps19	C	A	7: 24,588,517 (GRCm39)	T181K	unknown	Het
Skic2	G	A	17: 35,060,103 (GRCm39)	A889V	probably benign	Het
Slc22a3	A	C	17: 12,640,368 (GRCm39)	C538G	probably benign	Het
Slc2a10	T	A	2: 165,356,787 (GRCm39)	F149Y	possibly damaging	Het
Smarcal1	A	G	1: 72,640,554 (GRCm39)	I516M	probably benign	Het
Smarcc2	T	A	10: 128,318,190 (GRCm39)	W601R	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Srp68	A	G	11: 116,143,589 (GRCm39)	S369P	probably benign	Het
Tex2	C	T	11: 106,459,221 (GRCm39)	E70K	probably damaging	Het
Ticam2	A	G	18: 46,693,590 (GRCm39)	S166P	probably damaging	Het
Trpv5	A	G	6: 41,652,272 (GRCm39)	S138P	probably benign	Het
Ttll8	C	T	15: 88,798,741 (GRCm39)	V665I	probably benign	Het
Vmn2r81	T	C	10: 79,104,028 (GRCm39)	L217P	possibly damaging	Het
Zbtb4	T	C	11: 69,669,101 (GRCm39)	V608A	probably benign	Het
Zfp957	A	G	14: 79,451,352 (GRCm39)	V149A	possibly damaging	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
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
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'- ACTACTGAGATTAAGGTGCGGG -3'
(R):5'- GCAGAATGCCGAGAGATTCTG -3'

Sequencing Primer
(F):5'- TCTGCCTGAGTGCCTGACTAG -3'
(R):5'- GAATGCCGAGAGATTCTGATTTTAG -3'

Posted On

2020-10-20