Mutagenetix > Incidental Mutation

Incidental Mutation 'R2258:Hrc'

243537

Institutional Source

Beutler Lab

Gene Symbol

Hrc

Ensembl Gene

ENSMUSG00000038239

Gene Name

histidine rich calcium binding protein

Synonyms

MMRRC Submission

040258-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2258 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44984714-44988398 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44986105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 419 (R419S)

Ref Sequence

ENSEMBL: ENSMUSP00000082459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003961] [ENSMUST00000042194] [ENSMUST00000085351] [ENSMUST00000210248] [ENSMUST00000210541] [ENSMUST00000211067] [ENSMUST00000211327] [ENSMUST00000211743] [ENSMUST00000211431]

AlphaFold

G5E8J6

Predicted Effect

probably benign
Transcript: ENSMUST00000003961

SMART Domains

Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863

Domain	Start	End	E-Value	Type
coiled coil region	27	129	N/A	INTRINSIC
coiled coil region	167	426	N/A	INTRINSIC
coiled coil region	448	500	N/A	INTRINSIC
low complexity region	534	550	N/A	INTRINSIC
coiled coil region	597	642	N/A	INTRINSIC
low complexity region	651	672	N/A	INTRINSIC
low complexity region	707	719	N/A	INTRINSIC
SAM	835	904	1.46e-10	SMART
SAM	950	1017	8.22e-5	SMART
SAM	1038	1110	3.58e-5	SMART
low complexity region	1156	1169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000042194

SMART Domains

Protein: ENSMUSP00000040367
Gene: ENSMUSG00000038260

Domain	Start	End	E-Value	Type
low complexity region	118	131	N/A	INTRINSIC
SCOP:d1awcb_	378	465	2e-3	SMART
low complexity region	600	612	N/A	INTRINSIC
low complexity region	637	645	N/A	INTRINSIC
transmembrane domain	688	710	N/A	INTRINSIC
Pfam:Ion_trans	781	1051	1.8e-13	PFAM
low complexity region	1089	1096	N/A	INTRINSIC
low complexity region	1191	1208	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085351
AA Change: R419S

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082459
Gene: ENSMUSG00000038239
AA Change: R419S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	32	45	N/A	INTRINSIC
internal_repeat_1	51	146	8.76e-11	PROSPERO
low complexity region	154	189	N/A	INTRINSIC
Pfam:Hist_rich_Ca-bd	213	225	1e-4	PFAM
low complexity region	240	254	N/A	INTRINSIC
low complexity region	260	274	N/A	INTRINSIC
low complexity region	287	304	N/A	INTRINSIC
Pfam:Hist_rich_Ca-bd	308	324	2.2e-8	PFAM
low complexity region	340	353	N/A	INTRINSIC
low complexity region	362	382	N/A	INTRINSIC
internal_repeat_1	399	490	8.76e-11	PROSPERO
coiled coil region	536	565	N/A	INTRINSIC
low complexity region	571	582	N/A	INTRINSIC
coiled coil region	594	621	N/A	INTRINSIC
low complexity region	632	648	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210479

Predicted Effect

probably benign
Transcript: ENSMUST00000210541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210586

Predicted Effect

probably benign
Transcript: ENSMUST00000211067

Predicted Effect

probably benign
Transcript: ENSMUST00000211327

Predicted Effect

probably benign
Transcript: ENSMUST00000211743

Predicted Effect

probably benign
Transcript: ENSMUST00000211431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211411

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in impaired weight gain and weight loss around 1 year of age and increased susceptibility to induced cardiac hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,207,267 (GRCm39)	N308S	possibly damaging	Het
Acot5	A	T	12: 84,122,643 (GRCm39)	H409L	possibly damaging	Het
Ang4	A	G	14: 52,001,955 (GRCm39)		probably benign	Het
Ap3d1	A	G	10: 80,556,966 (GRCm39)	S315P	probably benign	Het
Arhgap15	G	A	2: 44,276,359 (GRCm39)	G437R	probably damaging	Het
Cacna2d1	T	C	5: 16,562,287 (GRCm39)	C810R	probably damaging	Het
Capn5	A	G	7: 97,785,082 (GRCm39)	W131R	probably damaging	Het
Ccnj	A	G	19: 40,834,277 (GRCm39)	Q292R	probably benign	Het
Cd177	A	G	7: 24,455,661 (GRCm39)	V287A	possibly damaging	Het
Cdk5r2	T	C	1: 74,895,059 (GRCm39)	L268P	probably damaging	Het
Cfap251	C	G	5: 123,421,411 (GRCm39)		probably null	Het
Clrn2	A	G	5: 45,611,304 (GRCm39)	D51G	probably benign	Het
Cntd1	T	C	11: 101,175,682 (GRCm39)	S174P	probably damaging	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Col17a1	C	T	19: 47,669,816 (GRCm39)		probably null	Het
Cyp2a5	A	G	7: 26,536,528 (GRCm39)	D169G	possibly damaging	Het
Cyp2c37	A	G	19: 39,984,303 (GRCm39)	I264V	possibly damaging	Het
Cyp2j12	A	G	4: 96,021,315 (GRCm39)	I97T	probably damaging	Het
Dipk1b	T	C	2: 26,525,162 (GRCm39)	L157P	probably damaging	Het
Eif3b	T	C	5: 140,413,258 (GRCm39)	F354L	possibly damaging	Het
Eif4a3l1	A	T	6: 136,305,559 (GRCm39)	M7L	probably benign	Het
Entpd2	C	T	2: 25,288,099 (GRCm39)	P108S	probably damaging	Het
F5	T	A	1: 164,019,750 (GRCm39)	S742T	probably damaging	Het
Fam187a	A	G	11: 102,776,124 (GRCm39)		probably benign	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Fndc3b	G	T	3: 27,494,309 (GRCm39)	Q939K	possibly damaging	Het
Gja4	C	A	4: 127,206,623 (GRCm39)	D47Y	probably damaging	Het
Gm11565	T	G	11: 99,805,844 (GRCm39)	C79G	possibly damaging	Het
Gpbar1	T	C	1: 74,318,164 (GRCm39)	F136L	probably benign	Het
Gsn	G	A	2: 35,180,349 (GRCm39)	G130E	probably damaging	Het
Hecw1	A	T	13: 14,490,723 (GRCm39)	D756E	probably benign	Het
Inpp4a	T	A	1: 37,416,777 (GRCm39)	S433T	probably damaging	Het
Ism2	C	A	12: 87,326,848 (GRCm39)	V320L	possibly damaging	Het
Krt8	G	T	15: 101,907,257 (GRCm39)	D275E	probably benign	Het
Lgalsl2	A	G	7: 5,362,401 (GRCm39)	M11V	probably benign	Het
Lyg2	A	C	1: 37,948,077 (GRCm39)	N132K	probably benign	Het
Lyst	G	A	13: 13,812,243 (GRCm39)	R885Q	probably benign	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mcc	C	A	18: 44,608,203 (GRCm39)	G355W	probably damaging	Het
Mllt6	T	C	11: 97,555,802 (GRCm39)	V44A	probably damaging	Het
Mrgpra3	A	T	7: 47,239,842 (GRCm39)	M28K	probably benign	Het
Ms4a15	A	G	19: 10,962,159 (GRCm39)	C47R	probably benign	Het
Muc5ac	A	G	7: 141,344,745 (GRCm39)	N72S	probably benign	Het
Myo18b	C	T	5: 113,022,529 (GRCm39)		probably benign	Het
Nat8f4	A	T	6: 85,878,207 (GRCm39)	H105Q	possibly damaging	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Nptx1	T	G	11: 119,434,142 (GRCm39)	I315L	probably benign	Het
Nrap	T	C	19: 56,310,394 (GRCm39)	R1534G	possibly damaging	Het
Nwd2	C	A	5: 63,962,499 (GRCm39)	N694K	probably benign	Het
Oas1c	G	A	5: 120,941,082 (GRCm39)	A35V	probably null	Het
Or2d3b	A	G	7: 106,514,113 (GRCm39)	K236R	probably damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or5p58	C	T	7: 107,694,402 (GRCm39)	R125H	possibly damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pate8	C	A	9: 36,493,161 (GRCm39)	V54L	probably benign	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Plaat5	C	T	19: 7,590,111 (GRCm39)	R46C	probably damaging	Het
Polr1f	A	G	12: 33,483,587 (GRCm39)	H113R	probably damaging	Het
Prex1	C	T	2: 166,429,077 (GRCm39)	V839I	probably benign	Het
Psmd3	T	A	11: 98,581,790 (GRCm39)	M305K	probably benign	Het
Rbm20	T	C	19: 53,840,172 (GRCm39)	S1054P	probably benign	Het
Rhox13	G	C	X: 37,210,221 (GRCm39)	E19Q	unknown	Het
Ryr2	A	G	13: 11,753,102 (GRCm39)	F1740L	possibly damaging	Het
Sox1	C	A	8: 12,446,927 (GRCm39)	N189K	possibly damaging	Het
Spta1	C	A	1: 174,001,907 (GRCm39)	S12R	possibly damaging	Het
Stard13	A	G	5: 150,963,196 (GRCm39)	L971P	probably damaging	Het
Tigd4	T	A	3: 84,501,600 (GRCm39)	N172K	probably benign	Het
Tmt1a	A	T	15: 100,211,049 (GRCm39)	I174F	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Unc45b	T	A	11: 82,808,625 (GRCm39)	M237K	probably benign	Het
Vldlr	A	G	19: 27,215,786 (GRCm39)	D220G	probably damaging	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Wdr25	T	A	12: 108,864,100 (GRCm39)	S82T	possibly damaging	Het
Wnk4	C	A	11: 101,165,861 (GRCm39)	P796Q	probably damaging	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	Het
Zc3h15	G	A	2: 83,487,360 (GRCm39)	V60I	probably benign	Het
Zfp629	G	A	7: 127,210,963 (GRCm39)	T282M	probably damaging	Het
Zscan22	T	G	7: 12,637,887 (GRCm39)	V93G	probably damaging	Het

Other mutations in Hrc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03379:Hrc	APN	7	44,986,679 (GRCm39)	missense	probably benign	0.27
BB004:Hrc	UTSW	7	44,985,477 (GRCm39)	missense	possibly damaging	0.53
BB014:Hrc	UTSW	7	44,985,477 (GRCm39)	missense	possibly damaging	0.53
R0017:Hrc	UTSW	7	44,985,794 (GRCm39)	missense	possibly damaging	0.71
R0047:Hrc	UTSW	7	44,986,113 (GRCm39)	missense	probably benign	0.00
R0047:Hrc	UTSW	7	44,986,113 (GRCm39)	missense	probably benign	0.00
R0310:Hrc	UTSW	7	44,985,921 (GRCm39)	missense	probably benign
R0436:Hrc	UTSW	7	44,985,557 (GRCm39)	missense	possibly damaging	0.53
R0534:Hrc	UTSW	7	44,986,659 (GRCm39)	unclassified	probably benign
R1230:Hrc	UTSW	7	44,985,887 (GRCm39)	missense	possibly damaging	0.85
R1808:Hrc	UTSW	7	44,986,202 (GRCm39)	missense	probably damaging	0.99
R1975:Hrc	UTSW	7	44,985,638 (GRCm39)	missense	probably damaging	0.98
R1977:Hrc	UTSW	7	44,985,638 (GRCm39)	missense	probably damaging	0.98
R2260:Hrc	UTSW	7	44,986,105 (GRCm39)	missense	possibly damaging	0.68
R3551:Hrc	UTSW	7	44,985,757 (GRCm39)	missense	possibly damaging	0.72
R3552:Hrc	UTSW	7	44,985,757 (GRCm39)	missense	possibly damaging	0.72
R4169:Hrc	UTSW	7	44,986,181 (GRCm39)	missense	probably benign	0.00
R5085:Hrc	UTSW	7	44,986,445 (GRCm39)	missense	probably damaging	0.99
R5204:Hrc	UTSW	7	44,985,128 (GRCm39)	missense	possibly damaging	0.96
R5215:Hrc	UTSW	7	44,985,515 (GRCm39)	missense	probably damaging	0.99
R5245:Hrc	UTSW	7	44,984,855 (GRCm39)	missense	probably damaging	1.00
R5390:Hrc	UTSW	7	44,984,909 (GRCm39)	missense	probably damaging	0.96
R5432:Hrc	UTSW	7	44,986,285 (GRCm39)	missense	possibly damaging	0.72
R5756:Hrc	UTSW	7	44,986,130 (GRCm39)	missense	possibly damaging	0.85
R5761:Hrc	UTSW	7	44,986,025 (GRCm39)	splice site	probably null
R5905:Hrc	UTSW	7	44,985,658 (GRCm39)	missense	probably damaging	0.99
R6144:Hrc	UTSW	7	44,986,157 (GRCm39)	missense	possibly damaging	0.86
R6684:Hrc	UTSW	7	44,985,956 (GRCm39)	missense	possibly damaging	0.53
R6699:Hrc	UTSW	7	44,985,119 (GRCm39)	missense	possibly damaging	0.85
R6809:Hrc	UTSW	7	44,985,803 (GRCm39)	missense	probably benign
R6887:Hrc	UTSW	7	44,985,088 (GRCm39)	missense	probably benign	0.18
R7178:Hrc	UTSW	7	44,985,685 (GRCm39)	missense	possibly damaging	0.53
R7208:Hrc	UTSW	7	44,985,989 (GRCm39)	missense	possibly damaging	0.53
R7258:Hrc	UTSW	7	44,985,720 (GRCm39)	missense	possibly damaging	0.70
R7310:Hrc	UTSW	7	44,985,227 (GRCm39)	nonsense	probably null
R7456:Hrc	UTSW	7	44,986,320 (GRCm39)	missense	possibly damaging	0.83
R7525:Hrc	UTSW	7	44,985,803 (GRCm39)	missense	probably benign
R7673:Hrc	UTSW	7	44,986,658 (GRCm39)	missense	probably benign	0.00
R7734:Hrc	UTSW	7	44,986,100 (GRCm39)	missense	probably benign	0.06
R7927:Hrc	UTSW	7	44,985,477 (GRCm39)	missense	possibly damaging	0.53
R7952:Hrc	UTSW	7	44,985,692 (GRCm39)	missense	probably damaging	0.98
R8080:Hrc	UTSW	7	44,986,262 (GRCm39)	missense	probably damaging	0.96
R8823:Hrc	UTSW	7	44,985,722 (GRCm39)	missense	possibly damaging	0.85
R9173:Hrc	UTSW	7	44,986,799 (GRCm39)	critical splice donor site	probably null
R9358:Hrc	UTSW	7	44,985,984 (GRCm39)	missense	probably benign	0.33
Z1177:Hrc	UTSW	7	44,986,394 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TGGACGCCAAGGCTATGAAG -3'
(R):5'- GCCAAACTCAGTAGAAATGTCC -3'

Sequencing Primer
(F):5'- GATGACTCTACTGAGCATGTGCATC -3'
(R):5'- CTCATCATCACCCCTGGAGG -3'

Posted On

2014-10-16