Mutagenetix > Incidental Mutation

Incidental Mutation 'R0373:Calhm2'

30665

Institutional Source

Beutler Lab

Gene Symbol

Calhm2

Ensembl Gene

ENSMUSG00000033033

Gene Name

calcium homeostasis modulator 2

Synonyms

MMRRC Submission

038579-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47105353-47138294 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47132950 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 260 (D260G)

Ref Sequence

ENSEMBL: ENSMUSP00000121661 (fasta)

Gene Model

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

AlphaFold

Q8VEC4

Predicted Effect

probably benign
Transcript: ENSMUST00000035822
AA Change: D260G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000047278
Gene: ENSMUSG00000033033
AA Change: D260G

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

possibly damaging
Transcript: ENSMUST00000140512
AA Change: D260G

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121661
Gene: ENSMUSG00000033033
AA Change: D260G

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

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 138,173,582 (GRCm38)	L235Q	probably damaging	Het
Aadacl4fm4	A	T	4: 144,686,220 (GRCm38)	M50K	possibly damaging	Het
Adam6b	T	A	12: 113,490,655 (GRCm38)	V364D	probably benign	Het
Akap13	T	A	7: 75,730,500 (GRCm38)	S2193T	probably damaging	Het
Akap13	T	C	7: 75,609,929 (GRCm38)	L767P	probably benign	Het
Anapc11	T	C	11: 120,605,377 (GRCm38)	V69A	probably benign	Het
Ankmy1	C	T	1: 92,896,190 (GRCm38)	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,638,053 (GRCm38)	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,288,168 (GRCm38)	R280C	probably damaging	Het
Bbs10	T	A	10: 111,300,052 (GRCm38)	I342N	probably damaging	Het
Camk2a	A	G	18: 60,958,238 (GRCm38)	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,319,545 (GRCm38)	M270L	probably benign	Het
Cdc16	A	G	8: 13,779,264 (GRCm38)	T517A	probably benign	Het
Ces1g	T	C	8: 93,331,193 (GRCm38)	H160R	probably benign	Het
Chst4	T	C	8: 110,030,394 (GRCm38)	N196S	probably damaging	Het
Ciz1	A	T	2: 32,367,467 (GRCm38)	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 87,027,040 (GRCm38)	V57I	probably damaging	Het
Cyth3	A	G	5: 143,684,426 (GRCm38)		probably benign	Het
Def6	A	G	17: 28,220,180 (GRCm38)	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,911,870 (GRCm38)	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,539,747 (GRCm38)	D825A	probably damaging	Het
Eif3m	T	C	2: 105,005,000 (GRCm38)	T242A	probably benign	Het
Emilin3	A	G	2: 160,909,817 (GRCm38)	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700 (GRCm38)		probably null	Het
Fbxo45	A	T	16: 32,238,405 (GRCm38)	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,090,104 (GRCm38)	M836L	possibly damaging	Het
Fut4	C	A	9: 14,751,210 (GRCm38)	V263F	probably damaging	Het
Ggt1	C	T	10: 75,579,270 (GRCm38)	T206M	probably benign	Het
Gls	T	C	1: 52,188,699 (GRCm38)	R79G	probably damaging	Het
Grhl1	T	C	12: 24,581,515 (GRCm38)	S156P	probably benign	Het
Ipo8	C	T	6: 148,775,042 (GRCm38)	S983N	probably benign	Het
Kcna7	C	T	7: 45,409,444 (GRCm38)	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,185,090 (GRCm38)	L40Q	probably damaging	Het
Matn1	A	T	4: 130,950,106 (GRCm38)	S209C	probably damaging	Het
Mcc	A	G	18: 44,475,222 (GRCm38)	I501T	probably benign	Het
Mdp1	A	T	14: 55,659,375 (GRCm38)	F104L	probably damaging	Het
Mib2	A	T	4: 155,656,288 (GRCm38)	N626K	probably damaging	Het
Mrgprh	T	C	17: 12,876,956 (GRCm38)	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,856,149 (GRCm38)		noncoding transcript	Het
Myh15	A	G	16: 49,182,959 (GRCm38)	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,821,042 (GRCm38)	P680A	probably benign	Het
Myom2	G	T	8: 15,098,419 (GRCm38)	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,170,881 (GRCm38)	N57S	probably benign	Het
Nectin3	C	T	16: 46,458,187 (GRCm38)	V282M	probably damaging	Het
Nup188	G	T	2: 30,330,988 (GRCm38)	D997Y	probably damaging	Het
Olfm3	T	C	3: 115,122,805 (GRCm38)	V462A	probably damaging	Het
Opcml	A	G	9: 28,813,398 (GRCm38)	H164R	possibly damaging	Het
Or14a259	A	T	7: 86,363,805 (GRCm38)	C177*	probably null	Het
Or4c120	A	T	2: 89,170,413 (GRCm38)	F266L	probably benign	Het
Or8u9	A	C	2: 86,171,706 (GRCm38)	F37C	probably damaging	Het
Pacrg	A	G	17: 10,403,418 (GRCm38)	I209T	probably damaging	Het
Pcf11	T	C	7: 92,661,215 (GRCm38)	M522V	probably benign	Het
Pck1	T	A	2: 173,153,390 (GRCm38)	M1K	probably null	Het
Pcm1	G	T	8: 41,276,111 (GRCm38)	E707*	probably null	Het
Pcsk5	G	A	19: 17,654,849 (GRCm38)	R318W	probably damaging	Het
Phf11d	A	T	14: 59,353,344 (GRCm38)	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,740,537 (GRCm38)	C615*	probably null	Het
Prkdc	T	A	16: 15,791,927 (GRCm38)	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,183,024 (GRCm38)		probably benign	Het
Prpsap2	A	G	11: 61,741,000 (GRCm38)	I177T	possibly damaging	Het
Rad50	A	G	11: 53,650,519 (GRCm38)	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,635,244 (GRCm38)	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,835,980 (GRCm38)	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,574,400 (GRCm38)	T210S	possibly damaging	Het
Scd2	A	G	19: 44,303,040 (GRCm38)	D306G	probably damaging	Het
Sema3b	T	C	9: 107,602,918 (GRCm38)	N207S	probably benign	Het
Sf3b2	C	T	19: 5,274,824 (GRCm38)	D845N	probably damaging	Het
Sipa1l2	C	A	8: 125,464,410 (GRCm38)	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,226,031 (GRCm38)	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,287,367 (GRCm38)	I461L	probably benign	Het
Slc1a6	C	A	10: 78,801,922 (GRCm38)	Y427*	probably null	Het
Slc30a4	A	T	2: 122,689,399 (GRCm38)	I231K	probably damaging	Het
Sos1	G	T	17: 80,453,763 (GRCm38)	A168D	probably damaging	Het
Spata31f1a	T	C	4: 42,851,161 (GRCm38)	I332V	probably benign	Het
Sptb	T	C	12: 76,621,371 (GRCm38)	S651G	probably benign	Het
Stk36	T	C	1: 74,633,620 (GRCm38)	L1007P	probably damaging	Het
Tek	A	T	4: 94,804,341 (GRCm38)	N229Y	probably damaging	Het
Tep1	A	G	14: 50,836,768 (GRCm38)	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,878,209 (GRCm38)	C602*	probably null	Het
Tnfrsf19	A	G	14: 60,972,036 (GRCm38)	S262P	possibly damaging	Het
Trim5	T	C	7: 104,265,684 (GRCm38)	I393V	probably benign	Het
Trpm6	A	G	19: 18,853,587 (GRCm38)	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,188,326 (GRCm38)	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,398,777 (GRCm38)	L151H	probably damaging	Het
U2surp	C	T	9: 95,484,443 (GRCm38)	V470I	probably benign	Het
Ubr1	A	T	2: 120,946,657 (GRCm38)	Y276N	probably benign	Het
Uggt1	A	G	1: 36,179,670 (GRCm38)	S59P	probably benign	Het
Unc45a	T	C	7: 80,326,344 (GRCm38)	T796A	probably damaging	Het
Unc5b	C	A	10: 60,778,940 (GRCm38)	V193F	possibly damaging	Het
Upp1	G	T	11: 9,129,590 (GRCm38)	M50I	probably benign	Het
Vps18	C	T	2: 119,293,905 (GRCm38)	R438C	probably damaging	Het
Zfp715	T	C	7: 43,299,336 (GRCm38)	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,302,522 (GRCm38)	Y322H	probably benign	Het

Other mutations in Calhm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02551:Calhm2	APN	19	47,133,100 (GRCm38)	missense	probably damaging	1.00
R0601:Calhm2	UTSW	19	47,141,030 (GRCm38)	splice site	probably null
R0729:Calhm2	UTSW	19	47,132,917 (GRCm38)	missense	possibly damaging	0.51
R5451:Calhm2	UTSW	19	47,132,875 (GRCm38)	missense	possibly damaging	0.76
R5626:Calhm2	UTSW	19	47,133,119 (GRCm38)	missense	probably damaging	0.96
R6106:Calhm2	UTSW	19	47,133,062 (GRCm38)	missense	probably damaging	1.00
R7145:Calhm2	UTSW	19	47,135,641 (GRCm38)	missense	probably benign	0.42
R7919:Calhm2	UTSW	19	47,133,008 (GRCm38)	missense	possibly damaging	0.89
R8407:Calhm2	UTSW	19	47,110,316 (GRCm38)	nonsense	probably null
R8422:Calhm2	UTSW	19	47,133,140 (GRCm38)	missense	probably benign
R9093:Calhm2	UTSW	19	47,133,160 (GRCm38)	missense	probably benign	0.44
R9215:Calhm2	UTSW	19	47,132,866 (GRCm38)	missense	possibly damaging	0.62
R9405:Calhm2	UTSW	19	47,135,669 (GRCm38)	missense	probably benign	0.12
R9736:Calhm2	UTSW	19	47,133,158 (GRCm38)	missense	probably benign	0.25
X0028:Calhm2	UTSW	19	47,133,019 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGATGCTGAAATGAGCACGCC -3'
(R):5'- ACATTACTGCTCGCCACTCAGCTAC -3'

Sequencing Primer
(F):5'- CTAGTTCCGCTTACAGAGCATAG -3'
(R):5'- ACTCAGCTACCGTCAGGAG -3'

Posted On

2013-04-24