Mutagenetix > Incidental Mutation

Incidental Mutation 'R2012:Cherp'

219955

Institutional Source

Beutler Lab

Gene Symbol

Cherp

Ensembl Gene

ENSMUSG00000052488

Gene Name

calcium homeostasis endoplasmic reticulum protein

Synonyms

DAN16, SCAF6, D8Wsu96e, 5730408I11Rik

MMRRC Submission

040021-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R2012 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

73214333-73229070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 73228613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 14 (N14K)

Ref Sequence

ENSEMBL: ENSMUSP00000148273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079510] [ENSMUST00000212991]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000079510
AA Change: N14K

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000078469
Gene: ENSMUSG00000052488
AA Change: N14K

Domain	Start	End	E-Value	Type
SWAP	13	65	9.76e-24	SMART
low complexity region	78	100	N/A	INTRINSIC
low complexity region	107	124	N/A	INTRINSIC
RPR	156	286	5.32e-2	SMART
coiled coil region	310	334	N/A	INTRINSIC
low complexity region	362	385	N/A	INTRINSIC
low complexity region	409	419	N/A	INTRINSIC
low complexity region	439	463	N/A	INTRINSIC
low complexity region	488	500	N/A	INTRINSIC
low complexity region	526	560	N/A	INTRINSIC
low complexity region	565	580	N/A	INTRINSIC
low complexity region	591	606	N/A	INTRINSIC
low complexity region	725	736	N/A	INTRINSIC
low complexity region	743	829	N/A	INTRINSIC
G_patch	850	900	9.8e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212016

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212870

Predicted Effect

probably damaging
Transcript: ENSMUST00000212991
AA Change: N14K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	T	5: 8,167,634 (GRCm39)	S675R	probably damaging	Het
Akap5	A	T	12: 76,376,122 (GRCm39)	H518L	possibly damaging	Het
Ankfn1	T	C	11: 89,296,423 (GRCm39)	D102G	probably damaging	Het
Aox3	A	T	1: 58,177,391 (GRCm39)	Y202F	probably benign	Het
Arhgef37	G	A	18: 61,637,427 (GRCm39)	L412F	possibly damaging	Het
B4galt3	C	T	1: 171,100,118 (GRCm39)	P121L	probably damaging	Het
BC034090	C	T	1: 155,097,178 (GRCm39)	R640Q	probably damaging	Het
Bhmt	A	T	13: 93,761,900 (GRCm39)	Y128N	probably damaging	Het
Bin3	A	G	14: 70,372,222 (GRCm39)	E173G	probably damaging	Het
C1qtnf1	T	A	11: 118,339,110 (GRCm39)	F260Y	probably benign	Het
Ccdc14	G	T	16: 34,511,092 (GRCm39)	G22V	possibly damaging	Het
Ccnc	A	T	4: 21,741,955 (GRCm39)	I135L	possibly damaging	Het
Chd3	T	C	11: 69,239,878 (GRCm39)	D1650G	probably benign	Het
Clint1	C	T	11: 45,784,919 (GRCm39)	T306I	possibly damaging	Het
Cyb5r1	T	A	1: 134,335,315 (GRCm39)	Y85N	probably damaging	Het
D830013O20Rik	A	G	12: 73,418,162 (GRCm39)		noncoding transcript	Het
Dapk1	A	T	13: 60,869,671 (GRCm39)	K304N	probably damaging	Het
Dnah6	T	A	6: 73,044,449 (GRCm39)	N3169Y	probably damaging	Het
Dync2h1	A	T	9: 7,169,589 (GRCm39)	I296K	probably benign	Het
Elp2	A	T	18: 24,764,515 (GRCm39)	T621S	probably benign	Het
Eml6	G	T	11: 29,781,128 (GRCm39)	Q635K	possibly damaging	Het
Exph5	G	A	9: 53,278,466 (GRCm39)	M192I	possibly damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gas6	C	T	8: 13,518,266 (GRCm39)	V523M	probably damaging	Het
Ggn	A	T	7: 28,873,188 (GRCm39)		probably null	Het
Gimap8	A	G	6: 48,633,287 (GRCm39)	T369A	probably damaging	Het
Grm5	T	C	7: 87,724,080 (GRCm39)	I790T	probably damaging	Het
Gtpbp6	G	A	5: 110,252,790 (GRCm39)	A354V	probably damaging	Het
Habp4	G	A	13: 64,317,995 (GRCm39)		probably null	Het
Has2	A	G	15: 56,531,264 (GRCm39)	W484R	probably damaging	Het
Herc4	G	T	10: 63,079,817 (GRCm39)		probably benign	Het
Igf2	C	A	7: 142,208,136 (GRCm39)	E106D	probably damaging	Het
Il17rb	A	T	14: 29,718,797 (GRCm39)	C428*	probably null	Het
Ipo11	A	T	13: 107,056,130 (GRCm39)	N47K	probably benign	Het
Itga4	T	G	2: 79,108,138 (GRCm39)	S197A	probably damaging	Het
Itpr1	T	A	6: 108,417,497 (GRCm39)	M1788K	probably benign	Het
Kbtbd3	C	T	9: 4,330,919 (GRCm39)	T431I	probably benign	Het
Kif5a	A	T	10: 127,075,044 (GRCm39)	V523E	probably benign	Het
Klhl41	A	T	2: 69,513,840 (GRCm39)	D573V	possibly damaging	Het
Kndc1	C	A	7: 139,501,196 (GRCm39)	H828Q	possibly damaging	Het
Leng8	T	A	7: 4,146,609 (GRCm39)	V407D	probably damaging	Het
Mamdc2	C	T	19: 23,288,215 (GRCm39)	E608K	probably benign	Het
Mcf2	T	A	X: 59,122,574 (GRCm39)	R850S	probably damaging	Het
Mmp2	A	G	8: 93,576,831 (GRCm39)	N618S	probably benign	Het
Morn5	A	T	2: 35,942,950 (GRCm39)	M17L	probably benign	Het
Nme8	T	C	13: 19,881,053 (GRCm39)	N26S	probably damaging	Het
Nostrin	C	A	2: 68,975,111 (GRCm39)		probably null	Het
Npy4r	T	A	14: 33,869,154 (GRCm39)	I45F	possibly damaging	Het
Or13a21	T	A	7: 139,999,024 (GRCm39)	I221F	probably damaging	Het
Or1j11	A	G	2: 36,311,931 (GRCm39)	I174V	probably benign	Het
Or2aj5	C	T	16: 19,424,881 (GRCm39)	C179Y	probably benign	Het
Or2w1	T	A	13: 21,317,659 (GRCm39)	M238K	probably benign	Het
Or2w3b	T	C	11: 58,623,214 (GRCm39)	Y259C	possibly damaging	Het
Or4a70	A	G	2: 89,324,342 (GRCm39)	F105L	probably benign	Het
Or5d36	A	G	2: 87,901,063 (GRCm39)	V221A	probably benign	Het
Oxt	A	G	2: 130,418,572 (GRCm39)	D61G	probably damaging	Het
Patl1	T	C	19: 11,917,181 (GRCm39)	L676P	probably damaging	Het
Pcdhb20	G	A	18: 37,638,127 (GRCm39)	G218R	probably damaging	Het
Pdgfrb	T	A	18: 61,194,566 (GRCm39)	S114R	probably benign	Het
Pfdn5	A	G	15: 102,234,956 (GRCm39)	N54S	possibly damaging	Het
Phldb1	G	T	9: 44,639,333 (GRCm39)	T15N	possibly damaging	Het
Pink1	A	C	4: 138,045,316 (GRCm39)	S253A	probably null	Het
Plag1	A	T	4: 3,904,870 (GRCm39)	L107Q	probably damaging	Het
Pld5	C	A	1: 175,791,579 (GRCm39)	V476L	probably benign	Het
Pramel28	A	T	4: 143,692,637 (GRCm39)	D121E	probably benign	Het
Prrt2	C	T	7: 126,618,581 (GRCm39)	A295T	probably damaging	Het
Ptgs1	A	G	2: 36,127,668 (GRCm39)	I76V	probably benign	Het
Ptprz1	A	G	6: 23,001,026 (GRCm39)	T1039A	probably benign	Het
Rbm20	G	A	19: 53,847,859 (GRCm39)	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,787,923 (GRCm39)	N465K	probably benign	Het
Rgs12	A	G	5: 35,187,872 (GRCm39)	S510G	probably benign	Het
Satb1	G	A	17: 52,089,816 (GRCm39)	Q344*	probably null	Het
Sdr16c5	A	G	4: 3,996,244 (GRCm39)	I283T	probably benign	Het
Serpinb3c	T	C	1: 107,199,574 (GRCm39)	S316G	possibly damaging	Het
Siglec1	A	T	2: 130,925,277 (GRCm39)	Y395N	probably damaging	Het
Simc1	A	G	13: 54,651,701 (GRCm39)	I5V	probably benign	Het
Slc27a2	T	C	2: 126,395,535 (GRCm39)	V154A	probably damaging	Het
Slc27a5	A	G	7: 12,731,634 (GRCm39)	L119S	probably damaging	Het
Slc35g2	T	A	9: 100,435,120 (GRCm39)	T184S	possibly damaging	Het
Slc4a7	C	T	14: 14,733,727 (GRCm38)	R46*	probably null	Het
Smcr8	T	C	11: 60,669,010 (GRCm39)	F53L	probably damaging	Het
Spag9	T	A	11: 93,983,201 (GRCm39)	L504*	probably null	Het
Spata31d1a	A	G	13: 59,850,370 (GRCm39)	I586T	possibly damaging	Het
Spata31d1c	A	T	13: 65,183,041 (GRCm39)	E194D	possibly damaging	Het
Spats2	A	G	15: 99,076,375 (GRCm39)	E151G	probably damaging	Het
Sugp2	T	A	8: 70,695,861 (GRCm39)	L278Q	possibly damaging	Het
Sult2a7	T	A	7: 14,207,322 (GRCm39)		probably benign	Het
Syde2	G	T	3: 145,694,163 (GRCm39)	G137V	possibly damaging	Het
Synj1	A	T	16: 90,735,584 (GRCm39)	F1456L	probably damaging	Het
Szt2	A	G	4: 118,220,862 (GRCm39)		probably benign	Het
Timd4	C	A	11: 46,710,857 (GRCm39)	T253K	possibly damaging	Het
Tlr3	G	T	8: 45,855,823 (GRCm39)	T119N	possibly damaging	Het
Tmc6	A	G	11: 117,660,232 (GRCm39)	Y669H	probably damaging	Het
Tmem221	T	C	8: 72,008,458 (GRCm39)	E194G	probably benign	Het
Tmem232	C	A	17: 65,807,167 (GRCm39)	V9F	probably benign	Het
Tpm1	G	A	9: 66,941,247 (GRCm39)	Q135*	probably null	Het
Trank1	A	G	9: 111,194,096 (GRCm39)	T707A	probably benign	Het
Trpm7	A	T	2: 126,665,917 (GRCm39)	Y896*	probably null	Het
Tuba4a	A	T	1: 75,192,983 (GRCm39)	Y210*	probably null	Het
Tut7	A	G	13: 59,959,352 (GRCm39)	V372A	probably damaging	Het
Vegfa	T	G	17: 46,336,284 (GRCm39)	I279L	probably benign	Het
Vmn2r54	T	A	7: 12,349,804 (GRCm39)	T593S	probably damaging	Het
Vmn2r93	A	G	17: 18,536,840 (GRCm39)	I508V	probably benign	Het
Vps33a	G	T	5: 123,669,244 (GRCm39)		probably null	Het
Wasl	T	A	6: 24,624,360 (GRCm39)	N231I	probably damaging	Het
Zbtb39	A	G	10: 127,578,703 (GRCm39)	N426D	probably benign	Het
Zeb2	T	G	2: 44,887,962 (GRCm39)	H350P	probably damaging	Het
Zfp112	T	C	7: 23,824,725 (GRCm39)	F231S	possibly damaging	Het
Zfp180	T	C	7: 23,803,943 (GRCm39)	S121P	probably benign	Het

Other mutations in Cherp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Cherp	APN	8	73,222,090 (GRCm39)	missense	probably damaging	0.97
IGL00955:Cherp	APN	8	73,224,038 (GRCm39)	missense	probably damaging	0.99
R0452:Cherp	UTSW	8	73,215,366 (GRCm39)	unclassified	probably benign
R0479:Cherp	UTSW	8	73,216,991 (GRCm39)	missense	possibly damaging	0.66
R0594:Cherp	UTSW	8	73,216,246 (GRCm39)	critical splice donor site	probably null
R1734:Cherp	UTSW	8	73,223,932 (GRCm39)	critical splice donor site	probably null
R1781:Cherp	UTSW	8	73,221,615 (GRCm39)	missense	probably damaging	1.00
R1793:Cherp	UTSW	8	73,216,994 (GRCm39)	missense	probably benign	0.12
R2845:Cherp	UTSW	8	73,220,247 (GRCm39)	missense	probably damaging	0.99
R3612:Cherp	UTSW	8	73,215,840 (GRCm39)	unclassified	probably benign
R3693:Cherp	UTSW	8	73,221,755 (GRCm39)	small deletion	probably benign
R3899:Cherp	UTSW	8	73,223,780 (GRCm39)	missense	possibly damaging	0.63
R3900:Cherp	UTSW	8	73,223,780 (GRCm39)	missense	possibly damaging	0.63
R3970:Cherp	UTSW	8	73,223,795 (GRCm39)	missense	possibly damaging	0.60
R4915:Cherp	UTSW	8	73,222,241 (GRCm39)	missense	probably damaging	1.00
R5512:Cherp	UTSW	8	73,217,110 (GRCm39)	missense	possibly damaging	0.66
R5556:Cherp	UTSW	8	73,221,824 (GRCm39)	missense	probably damaging	0.99
R5739:Cherp	UTSW	8	73,221,659 (GRCm39)	small deletion	probably benign
R5768:Cherp	UTSW	8	73,216,957 (GRCm39)	missense	probably damaging	0.98
R5824:Cherp	UTSW	8	73,216,102 (GRCm39)	unclassified	probably benign
R5963:Cherp	UTSW	8	73,215,379 (GRCm39)	unclassified	probably benign
R6255:Cherp	UTSW	8	73,224,725 (GRCm39)	missense	probably damaging	0.99
R7145:Cherp	UTSW	8	73,222,230 (GRCm39)	missense
R7538:Cherp	UTSW	8	73,216,263 (GRCm39)	missense
R7578:Cherp	UTSW	8	73,218,102 (GRCm39)	missense
R8329:Cherp	UTSW	8	73,215,852 (GRCm39)	missense
R9717:Cherp	UTSW	8	73,216,920 (GRCm39)	critical splice donor site	probably null
RF001:Cherp	UTSW	8	73,215,893 (GRCm39)	frame shift	probably null
RF007:Cherp	UTSW	8	73,215,903 (GRCm39)	small deletion	probably benign
RF036:Cherp	UTSW	8	73,215,891 (GRCm39)	frame shift	probably null
RF036:Cherp	UTSW	8	73,215,888 (GRCm39)	frame shift	probably null
RF059:Cherp	UTSW	8	73,215,899 (GRCm39)	frame shift	probably null
T0722:Cherp	UTSW	8	73,215,878 (GRCm39)	small deletion	probably benign
T0975:Cherp	UTSW	8	73,215,878 (GRCm39)	small deletion	probably benign
Z1176:Cherp	UTSW	8	73,224,797 (GRCm39)	missense
Z1177:Cherp	UTSW	8	73,228,979 (GRCm39)	start gained	probably benign
Z1177:Cherp	UTSW	8	73,216,760 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TAAAGAAATTGGCTGCGGCG -3'
(R):5'- TAGGCCATCCTTCTCTGGAG -3'

Sequencing Primer
(F):5'- CCGCATTGAACCCCGAG -3'
(R):5'- TGTTTCCCAGCGACAGC -3'

Posted On

2014-08-25