Mutagenetix > Incidental Mutation

Incidental Mutation 'R1899:Calr4'

214065

Institutional Source

Beutler Lab

Gene Symbol

Calr4

Ensembl Gene

ENSMUSG00000028558

Gene Name

calreticulin 4

Synonyms

4933403L16Rik

MMRRC Submission

039919-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R1899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109234485-109254571 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 109246293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030285] [ENSMUST00000106628] [ENSMUST00000106629] [ENSMUST00000106631]

AlphaFold

Q3TQS0

Predicted Effect

probably null
Transcript: ENSMUST00000030285

SMART Domains

Protein: ENSMUSP00000030285
Gene: ENSMUSG00000028558

Domain	Start	End	E-Value	Type
Pfam:Calreticulin	11	246	7e-61	PFAM
Pfam:Calreticulin	243	318	1.7e-21	PFAM
coiled coil region	336	416	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106628

SMART Domains

Protein: ENSMUSP00000102239
Gene: ENSMUSG00000028558

Domain	Start	End	E-Value	Type
Pfam:Calreticulin	1	211	6.4e-77	PFAM
coiled coil region	229	309	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106629

SMART Domains

Protein: ENSMUSP00000102240
Gene: ENSMUSG00000028558

Domain	Start	End	E-Value	Type
Pfam:Calreticulin	1	211	6.4e-77	PFAM
coiled coil region	229	309	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000106631

SMART Domains

Protein: ENSMUSP00000102242
Gene: ENSMUSG00000028558

Domain	Start	End	E-Value	Type
Pfam:Calreticulin	1	211	6.4e-77	PFAM
coiled coil region	229	309	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141555

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

94% (94/100)

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,258,342 (GRCm38)	W378R	probably benign	Het
4930522L14Rik	T	A	5: 109,736,798 (GRCm38)	Q398L	probably benign	Het
4930596D02Rik	T	G	14: 35,810,132 (GRCm38)	K162T	probably damaging	Het
Abca8b	G	T	11: 109,937,918 (GRCm38)	T1353K	possibly damaging	Het
Abcg3	A	C	5: 104,938,199 (GRCm38)	C565G	probably damaging	Het
Actr3b	G	A	5: 25,829,538 (GRCm38)	V185I	possibly damaging	Het
Akap6	A	T	12: 53,141,852 (GRCm38)	E2016D	possibly damaging	Het
Aldh3b2	T	C	19: 3,978,662 (GRCm38)	V148A	possibly damaging	Het
Ankfy1	C	T	11: 72,754,407 (GRCm38)	Q771*	probably null	Het
Anks1b	A	G	10: 90,260,756 (GRCm38)	D425G	probably damaging	Het
Arrb1	T	C	7: 99,582,297 (GRCm38)		probably benign	Het
Atg2a	C	A	19: 6,245,067 (GRCm38)	T170N	probably damaging	Het
Atp8b5	C	T	4: 43,361,804 (GRCm38)	R617C	possibly damaging	Het
Bicra	T	C	7: 15,987,751 (GRCm38)	T614A	possibly damaging	Het
Cacna1i	A	G	15: 80,391,642 (GRCm38)	D167G	possibly damaging	Het
Camsap3	G	T	8: 3,603,922 (GRCm38)	E515*	probably null	Het
Casp8ap2	T	C	4: 32,643,647 (GRCm38)	S907P	probably damaging	Het
Cdk19	T	A	10: 40,479,780 (GRCm38)		probably benign	Het
Chst14	A	G	2: 118,927,015 (GRCm38)	M122V	possibly damaging	Het
Cntn4	A	G	6: 106,675,813 (GRCm38)	M748V	probably benign	Het
Col7a1	A	G	9: 108,978,888 (GRCm38)	D2552G	unknown	Het
Cpeb2	C	A	5: 43,277,587 (GRCm38)	P600Q	probably damaging	Het
Cyp2a5	C	T	7: 26,839,033 (GRCm38)	R274*	probably null	Het
Dexi	A	G	16: 10,542,518 (GRCm38)	F58S	probably damaging	Het
Dlg5	C	A	14: 24,148,300 (GRCm38)	G1522W	probably damaging	Het
Dock2	T	C	11: 34,294,286 (GRCm38)	H1048R	probably benign	Het
Dpp4	T	C	2: 62,345,050 (GRCm38)		probably benign	Het
Dusp10	A	T	1: 184,069,180 (GRCm38)	K381N	possibly damaging	Het
Ercc4	A	G	16: 13,147,787 (GRCm38)	E761G	probably damaging	Het
Ern2	T	C	7: 122,183,842 (GRCm38)		probably benign	Het
Fam83f	A	T	15: 80,692,080 (GRCm38)	T311S	probably damaging	Het
Fat2	T	C	11: 55,262,178 (GRCm38)	D3736G	probably benign	Het
Fgf11	G	T	11: 69,801,453 (GRCm38)	T58K	probably benign	Het
Galntl5	C	G	5: 25,198,532 (GRCm38)	S167*	probably null	Het
Glg1	T	G	8: 111,165,674 (GRCm38)	E846D	probably benign	Het
Grm8	C	A	6: 28,125,895 (GRCm38)	E77D	probably damaging	Het
Hmcn1	A	T	1: 150,657,451 (GRCm38)	D3028E	probably damaging	Het
Htt	A	G	5: 34,907,085 (GRCm38)	I2943V	probably benign	Het
Ift80	T	C	3: 68,918,513 (GRCm38)	K498R	probably benign	Het
Ipo9	A	T	1: 135,400,146 (GRCm38)	M509K	probably damaging	Het
Kcnj3	T	C	2: 55,437,244 (GRCm38)	V15A	probably damaging	Het
Kcnn3	A	T	3: 89,520,455 (GRCm38)		probably benign	Het
Larp1b	T	A	3: 40,964,084 (GRCm38)	D53E	probably benign	Het
Ltf	T	C	9: 111,022,845 (GRCm38)	F117L	possibly damaging	Het
Maml1	A	G	11: 50,266,130 (GRCm38)	L406P	probably damaging	Het
Mnx1	G	A	5: 29,473,957 (GRCm38)	A376V	unknown	Het
Mroh2a	G	A	1: 88,235,376 (GRCm38)	R376H	probably benign	Het
Mrpl4	A	G	9: 21,006,831 (GRCm38)	Y111C	probably damaging	Het
Mto1	T	C	9: 78,461,517 (GRCm38)		probably benign	Het
Nalcn	A	T	14: 123,316,126 (GRCm38)	M972K	possibly damaging	Het
Nemf	T	C	12: 69,346,378 (GRCm38)	I225V	probably null	Het
Nipal4	T	G	11: 46,150,231 (GRCm38)	D379A	probably damaging	Het
Nktr	A	G	9: 121,748,866 (GRCm38)		probably benign	Het
Nlrp5	A	G	7: 23,404,797 (GRCm38)	T28A	probably benign	Het
Nxph1	T	A	6: 9,247,622 (GRCm38)	Y198N	probably damaging	Het
Olfr1037	A	T	2: 86,085,720 (GRCm38)	V19D	probably benign	Het
Olfr1230	T	C	2: 89,296,670 (GRCm38)	N200S	probably damaging	Het
Olfr1436	T	C	19: 12,298,343 (GRCm38)	Y263C	probably damaging	Het
P2rx7	A	G	5: 122,673,736 (GRCm38)	Y370C	probably benign	Het
Piezo1	T	C	8: 122,482,645 (GRCm38)		probably benign	Het
Piezo1	T	C	8: 122,489,566 (GRCm38)	D1401G	probably damaging	Het
Plxnd1	A	G	6: 115,969,363 (GRCm38)	L879P	probably benign	Het
Polr2a	A	T	11: 69,743,946 (GRCm38)	I636N	probably damaging	Het
Prex2	G	T	1: 11,162,366 (GRCm38)	E886*	probably null	Het
Proca1	A	T	11: 78,205,021 (GRCm38)	I73F	probably damaging	Het
Prss55	A	T	14: 64,079,390 (GRCm38)	V101E	probably benign	Het
Psg26	T	A	7: 18,478,425 (GRCm38)	H335L	probably benign	Het
Rai1	A	G	11: 60,185,920 (GRCm38)	E270G	probably benign	Het
Reep1	A	G	6: 71,780,797 (GRCm38)	N127D	probably benign	Het
Rims1	G	T	1: 22,428,474 (GRCm38)	P769Q	probably damaging	Het
Robo4	A	T	9: 37,404,070 (GRCm38)		probably benign	Het
Ryr2	A	T	13: 11,591,336 (GRCm38)	D888E	probably benign	Het
Scamp3	A	G	3: 89,180,260 (GRCm38)	N135D	probably damaging	Het
Sdk2	C	T	11: 113,838,646 (GRCm38)		silent	Het
Sema4f	A	G	6: 82,918,029 (GRCm38)	M395T	probably benign	Het
Sgip1	T	C	4: 102,968,337 (GRCm38)		probably null	Het
Sik2	A	T	9: 50,995,674 (GRCm38)		probably benign	Het
Smtn	G	T	11: 3,531,326 (GRCm38)	A223D	possibly damaging	Het
Spen	T	C	4: 141,470,343 (GRCm38)	T3405A	probably benign	Het
Srebf1	A	G	11: 60,203,486 (GRCm38)	L601P	probably damaging	Het
Srsf11	A	T	3: 158,031,580 (GRCm38)		probably benign	Het
Tacc2	T	G	7: 130,624,202 (GRCm38)	S891R	possibly damaging	Het
Tbc1d17	T	A	7: 44,841,633 (GRCm38)		probably benign	Het
Tgfbr3l	C	A	8: 4,249,600 (GRCm38)	R128S	probably damaging	Het
Thsd1	G	A	8: 22,252,318 (GRCm38)		probably benign	Het
Tlx3	T	C	11: 33,203,072 (GRCm38)	S130G	probably benign	Het
Tmem25	A	T	9: 44,798,216 (GRCm38)		probably null	Het
Trak2	A	T	1: 58,946,336 (GRCm38)	M1K	probably null	Het
Trappc12	C	T	12: 28,746,985 (GRCm38)	E183K	probably damaging	Het
Ubl3	A	G	5: 148,509,280 (GRCm38)	V71A	possibly damaging	Het
Unc50	A	G	1: 37,438,799 (GRCm38)	Y254C	probably damaging	Het
Unkl	T	C	17: 25,229,460 (GRCm38)		probably null	Het
Uso1	T	A	5: 92,201,192 (GRCm38)	S819T	probably benign	Het
Yes1	A	T	5: 32,645,051 (GRCm38)	R103S	probably damaging	Het
Zfp131	A	G	13: 119,767,025 (GRCm38)	V396A	probably damaging	Het
Zfp553	T	C	7: 127,235,654 (GRCm38)	I127T	possibly damaging	Het
Zfp599	A	T	9: 22,251,549 (GRCm38)	N102K	probably benign	Het
Zmynd10	A	T	9: 107,550,037 (GRCm38)	Q288L	probably benign	Het

Other mutations in Calr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Calr4	APN	4	109,244,115 (GRCm38)	missense	probably damaging	1.00
IGL01392:Calr4	APN	4	109,253,874 (GRCm38)	missense	probably benign	0.41
IGL01676:Calr4	APN	4	109,244,250 (GRCm38)	missense	probably damaging	0.99
IGL02587:Calr4	APN	4	109,238,937 (GRCm38)	missense	possibly damaging	0.76
PIT4576001:Calr4	UTSW	4	109,235,856 (GRCm38)	missense	possibly damaging	0.82
R0525:Calr4	UTSW	4	109,242,264 (GRCm38)	splice site	probably benign
R1444:Calr4	UTSW	4	109,246,241 (GRCm38)	missense	possibly damaging	0.76
R4561:Calr4	UTSW	4	109,246,182 (GRCm38)	missense	probably damaging	0.97
R5001:Calr4	UTSW	4	109,238,982 (GRCm38)	critical splice donor site	probably null
R5014:Calr4	UTSW	4	109,235,797 (GRCm38)	nonsense	probably null
R5088:Calr4	UTSW	4	109,244,662 (GRCm38)	intron	probably benign
R5267:Calr4	UTSW	4	109,244,076 (GRCm38)	missense	probably damaging	1.00
R6175:Calr4	UTSW	4	109,244,245 (GRCm38)	missense	probably benign	0.03
R6262:Calr4	UTSW	4	109,251,367 (GRCm38)	missense	probably damaging	1.00
R6795:Calr4	UTSW	4	109,244,788 (GRCm38)	missense	probably damaging	1.00
R7099:Calr4	UTSW	4	109,242,229 (GRCm38)	missense	probably benign	0.01
R7202:Calr4	UTSW	4	109,244,057 (GRCm38)	missense	possibly damaging	0.94
R7576:Calr4	UTSW	4	109,238,964 (GRCm38)	missense	probably benign	0.37
R7661:Calr4	UTSW	4	109,253,754 (GRCm38)	missense	probably benign
Z1177:Calr4	UTSW	4	109,235,733 (GRCm38)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TAAGAGGCTGTGACACAACTC -3'
(R):5'- GCAAAGTCCTTAATACAGTGGTTG -3'

Sequencing Primer
(F):5'- ACTGACATGTCCACTCTTGGTTGG -3'
(R):5'- TACAGTGGTTGTATAAGGGACTAAG -3'

Posted On

2014-07-14