Mutagenetix > Incidental Mutation

Incidental Mutation 'R7084:Sctr'

549718

Institutional Source

Beutler Lab

Gene Symbol

Sctr

Ensembl Gene

ENSMUSG00000026387

Gene Name

secretin receptor

Synonyms

6530402O03Rik

MMRRC Submission

045178-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7084 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119934710-119991269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119991001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 445 (N445Y)

Ref Sequence

ENSEMBL: ENSMUSP00000139932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056089] [ENSMUST00000072886] [ENSMUST00000189037]

AlphaFold

Q5FWI2

Predicted Effect

probably benign
Transcript: ENSMUST00000056089

SMART Domains

Protein: ENSMUSP00000050862
Gene: ENSMUSG00000050777

Domain	Start	End	E-Value	Type
Pfam:TMEM37	7	189	4.1e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072886
AA Change: N462Y

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000072660
Gene: ENSMUSG00000026387
AA Change: N462Y

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	36	53	N/A	INTRINSIC
HormR	76	146	5.18e-21	SMART
Pfam:7tm_2	153	398	3.8e-88	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189037
AA Change: N445Y

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139932
Gene: ENSMUSG00000026387
AA Change: N445Y

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	36	53	N/A	INTRINSIC
HormR	61	131	2.59e-21	SMART
Pfam:7tm_2	138	383	1.9e-89	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show polydipsia, polyuria, decreased urine osmolality, higher serum glucose levels, kidney glomerular and tubular pathology, and impaired renal water reabsorption. Homozygotes for a different null allele show impaired synaptic plasticity and social behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	T	13: 119,624,721 (GRCm39)	D8E	unknown	Het
Abca5	T	A	11: 110,192,371 (GRCm39)	I714L	probably benign	Het
Abce1	T	A	8: 80,426,043 (GRCm39)	S245C	probably benign	Het
Abcg1	T	A	17: 31,325,105 (GRCm39)	D310E	probably benign	Het
Adhfe1	T	A	1: 9,637,030 (GRCm39)	I394N	probably benign	Het
Apob	A	T	12: 8,059,591 (GRCm39)	D2691V	probably benign	Het
Arhgap18	A	G	10: 26,748,734 (GRCm39)	T340A	possibly damaging	Het
Arsb	A	T	13: 94,077,124 (GRCm39)	Q497L	probably benign	Het
Asic5	T	C	3: 81,919,318 (GRCm39)	I354T	probably benign	Het
Atp6v0a1	T	C	11: 100,924,868 (GRCm39)	C318R	probably damaging	Het
Cftr	T	C	6: 18,226,137 (GRCm39)	Y362H	probably benign	Het
Crip3	T	C	17: 46,741,716 (GRCm39)	Y113H	probably benign	Het
Dcaf4	AT	A	12: 83,584,571 (GRCm39)		probably null	Het
Dock10	T	A	1: 80,481,573 (GRCm39)	I475F		Het
Dqx1	T	A	6: 83,043,436 (GRCm39)	Y674N	probably damaging	Het
Dync2h1	G	T	9: 7,113,214 (GRCm39)	Q2437K	possibly damaging	Het
Ednra	A	T	8: 78,391,734 (GRCm39)	C385*	probably null	Het
Fam216a	G	A	5: 122,507,623 (GRCm39)	T68I	probably benign	Het
Fbxw22	A	G	9: 109,233,291 (GRCm39)	L14P	probably damaging	Het
Fem1al	G	T	11: 29,775,009 (GRCm39)	H149Q	probably damaging	Het
Fkbp10	A	G	11: 100,312,129 (GRCm39)	I230V	possibly damaging	Het
Ggn	C	A	7: 28,872,423 (GRCm39)	A637E	probably damaging	Het
Hcrtr2	T	C	9: 76,137,942 (GRCm39)	D391G	probably benign	Het
Heatr5b	A	T	17: 79,117,992 (GRCm39)	V817D	possibly damaging	Het
Il1f10	G	A	2: 24,183,682 (GRCm39)	W120*	probably null	Het
Irf5	C	A	6: 29,535,876 (GRCm39)	R297S	probably damaging	Het
Jak2	A	G	19: 29,263,798 (GRCm39)	T438A	possibly damaging	Het
Jsrp1	T	C	10: 80,644,410 (GRCm39)	D332G	possibly damaging	Het
Kank4	A	T	4: 98,659,582 (GRCm39)	V832D	probably damaging	Het
Kcnip3	C	T	2: 127,352,856 (GRCm39)	S25N	probably benign	Het
Klk1b16	C	T	7: 43,788,910 (GRCm39)	H48Y	probably benign	Het
Klrh1	C	A	6: 129,743,673 (GRCm39)	A204S	possibly damaging	Het
Krtap5-4	G	A	7: 141,857,609 (GRCm39)	C93Y	unknown	Het
Lacc1	T	A	14: 77,267,096 (GRCm39)	Q389L	probably benign	Het
Lin9	C	A	1: 180,515,661 (GRCm39)	T477K	probably benign	Het
Lpar2	A	T	8: 70,276,256 (GRCm39)	N15I	probably damaging	Het
Ltbp2	C	A	12: 84,915,459 (GRCm39)	C200F	probably damaging	Het
Mall	G	T	2: 127,550,793 (GRCm39)	H122Q	probably benign	Het
Mast3	T	C	8: 71,232,117 (GRCm39)	I1287V	probably benign	Het
Mindy4	T	C	6: 55,255,220 (GRCm39)	I566T	probably benign	Het
Mme	T	C	3: 63,235,638 (GRCm39)	Y195H	probably damaging	Het
Mpzl1	T	C	1: 165,432,267 (GRCm39)	T173A	probably benign	Het
Mri1	G	T	8: 84,977,708 (GRCm39)	T209N		Het
Myo1e	A	G	9: 70,245,083 (GRCm39)	I394V	probably damaging	Het
Nat14	T	C	7: 4,927,329 (GRCm39)	V167A	possibly damaging	Het
Nfasc	A	G	1: 132,498,247 (GRCm39)	Y1212H	unknown	Het
Nsun7	T	A	5: 66,452,764 (GRCm39)	L493Q	probably damaging	Het
Obsl1	A	T	1: 75,464,394 (GRCm39)	S1637R	probably benign	Het
Ocstamp	A	T	2: 165,239,957 (GRCm39)	Y76*	probably null	Het
Or5b95	A	C	19: 12,658,198 (GRCm39)	H242P	probably damaging	Het
Or6c2b	T	A	10: 128,947,416 (GRCm39)	K293*	probably null	Het
Or8b52	G	A	9: 38,576,565 (GRCm39)	R192C	probably benign	Het
Otog	T	A	7: 45,947,990 (GRCm39)	C145*	probably null	Het
Padi6	T	A	4: 140,468,869 (GRCm39)	K5*	probably null	Het
Pcdha5	T	A	18: 37,094,615 (GRCm39)	S375T	probably benign	Het
Pde10a	C	T	17: 9,159,994 (GRCm39)	P140S	probably benign	Het
Pgbd1	C	G	13: 21,607,300 (GRCm39)	C298S	possibly damaging	Het
Plch2	C	T	4: 155,071,448 (GRCm39)	G977D	probably benign	Het
Pou2f3	T	C	9: 43,040,188 (GRCm39)	T367A	probably damaging	Het
Ppm1j	T	A	3: 104,692,276 (GRCm39)	Y352N	probably damaging	Het
Prkag2	T	C	5: 25,226,967 (GRCm39)	T97A	probably benign	Het
Rpl36a-ps1	T	A	14: 99,231,660 (GRCm39)	Y26F	probably benign	Het
Serping1	C	T	2: 84,603,835 (GRCm39)	V69I	probably benign	Het
Slc8a2	T	A	7: 15,878,963 (GRCm39)	L483Q	probably benign	Het
Spag17	T	C	3: 99,846,586 (GRCm39)	F37L	probably benign	Het
Srrm2	T	A	17: 24,039,290 (GRCm39)	M1978K	probably damaging	Het
Tcp11	T	C	17: 28,285,995 (GRCm39)	Q540R	probably benign	Het
Thnsl1	G	T	2: 21,217,141 (GRCm39)	R298S	possibly damaging	Het
Tigd5	T	A	15: 75,782,230 (GRCm39)	Y197*	probably null	Het
Tmprss11g	A	T	5: 86,640,059 (GRCm39)	L203Q	probably damaging	Het
Trim35	T	A	14: 66,546,271 (GRCm39)	V346E	probably damaging	Het
Ttn	T	C	2: 76,598,708 (GRCm39)	I19402V	possibly damaging	Het
Ttn	C	T	2: 76,749,689 (GRCm39)	E3787K	probably benign	Het
Tut1	G	A	19: 8,942,778 (GRCm39)	V622I	probably benign	Het
Vmn1r2	A	G	4: 3,172,134 (GRCm39)	I18V	probably benign	Het
Zbbx	T	C	3: 75,046,853 (GRCm39)	N22S	possibly damaging	Het
Zfp169	A	C	13: 48,652,339 (GRCm39)	M26R	probably benign	Het
Zfp180	T	A	7: 23,804,686 (GRCm39)	H368Q	probably damaging	Het
Zfp638	T	A	6: 83,930,108 (GRCm39)	S770T	possibly damaging	Het
Znrf1	T	C	8: 112,263,774 (GRCm39)	M1T	probably null	Het

Other mutations in Sctr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Sctr	APN	1	119,972,450 (GRCm39)	missense	probably damaging	1.00
IGL01542:Sctr	APN	1	119,972,499 (GRCm39)	splice site	probably benign
IGL02798:Sctr	APN	1	119,949,910 (GRCm39)	missense	probably damaging	1.00
IGL02850:Sctr	APN	1	119,949,909 (GRCm39)	missense	probably damaging	1.00
IGL02850:Sctr	APN	1	119,972,393 (GRCm39)	missense	possibly damaging	0.95
IGL03256:Sctr	APN	1	119,959,289 (GRCm39)	splice site	probably benign
PIT4677001:Sctr	UTSW	1	119,989,634 (GRCm39)	missense	probably damaging	1.00
R0018:Sctr	UTSW	1	119,971,286 (GRCm39)	splice site	probably benign
R0166:Sctr	UTSW	1	119,983,124 (GRCm39)	missense	probably damaging	0.97
R1678:Sctr	UTSW	1	119,964,169 (GRCm39)	critical splice donor site	probably null
R1728:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1728:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1729:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1729:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1729:Sctr	UTSW	1	119,990,976 (GRCm39)	missense	probably benign	0.16
R1730:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1730:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1739:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1739:Sctr	UTSW	1	119,990,976 (GRCm39)	missense	probably benign	0.16
R1739:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1762:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1762:Sctr	UTSW	1	119,990,976 (GRCm39)	missense	probably benign	0.16
R1762:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1783:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R1785:Sctr	UTSW	1	119,990,987 (GRCm39)	missense	possibly damaging	0.67
R1785:Sctr	UTSW	1	119,990,976 (GRCm39)	missense	probably benign	0.16
R1785:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R2116:Sctr	UTSW	1	119,959,312 (GRCm39)	missense	probably damaging	1.00
R5522:Sctr	UTSW	1	119,964,146 (GRCm39)	missense	probably benign	0.10
R5776:Sctr	UTSW	1	119,984,137 (GRCm39)	missense	probably damaging	1.00
R5781:Sctr	UTSW	1	119,959,350 (GRCm39)	missense	probably damaging	0.99
R6333:Sctr	UTSW	1	119,984,182 (GRCm39)	missense	probably damaging	1.00
R7263:Sctr	UTSW	1	119,949,955 (GRCm39)	missense	probably benign
R7265:Sctr	UTSW	1	119,949,955 (GRCm39)	missense	probably benign
R7266:Sctr	UTSW	1	119,949,955 (GRCm39)	missense	probably benign
R7304:Sctr	UTSW	1	119,949,970 (GRCm39)	missense	probably damaging	1.00
R7343:Sctr	UTSW	1	119,949,955 (GRCm39)	missense	probably benign
R8063:Sctr	UTSW	1	119,991,005 (GRCm39)	missense	probably benign	0.09
R8914:Sctr	UTSW	1	119,959,386 (GRCm39)	missense	probably benign	0.00
R9146:Sctr	UTSW	1	119,982,010 (GRCm39)	missense	probably damaging	1.00
R9391:Sctr	UTSW	1	119,983,178 (GRCm39)	missense	probably benign	0.00
R9495:Sctr	UTSW	1	119,959,403 (GRCm39)	critical splice donor site	probably null
X0067:Sctr	UTSW	1	119,935,029 (GRCm39)	missense	probably benign
Z1088:Sctr	UTSW	1	119,964,136 (GRCm39)	frame shift	probably null
Z1176:Sctr	UTSW	1	119,949,979 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCAGTGAGTTGGGTTCCAG -3'
(R):5'- TGCTCCAGGATGACCTAGTCTC -3'

Sequencing Primer
(F):5'- CAATTGCTGCAGCTGATGGC -3'
(R):5'- CCTCTTGCTTGATCTCTGAGGAAG -3'

Posted On

2019-05-15